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SYNDROMES AND DISEASES Aldrich Syndrome

-First year of life:


Adult Respiratory Distress Syndrome (ARDS) Thrombocytopenia,
-delay in onset (12-24 hours) following injury, shock, and/or eczema
successful resuscitative effort recurrent infections
-lead to ARDS: -inherited: sex-linked recessive gene
septic shock -bleeding time is prolonged
extrathoracic trauma -platelet count is decreased
central nervous system (CNS) pathology -bone marrow megakaryocytes are normal in number
fat embolism
oxygen toxicity Amalric Syndrome
head and facial injuries -Granular macular pigment
massive blood transfusions epitheliopathy (foveal dystrophy) is
-charac: hypoxia and pulmonary infiltrates secondary to associated with sensorineural hearing loss
increased pulmonary vascular permeability, microvascular -Visual acuity is usually normal
hemorrhage, or both. -genetic or result of an intrauterine rubella
infection
Aide Syndrome
-decreased pupillary reaction Apert Syndrome
-deep tendon reflex -Not to be confused with Pfeiffer
-etiology is unknown syndrome which has different types of
hand malformations
Alagille Syndrome
-cardiovascular abnormalities Ascher Syndrome
-characteristic facial appearance -combination:
- chronic cholestasis blepharochalasis
-growth retardation double lip
- hypogonadism goiter
- mental retardation
- vertebral arch defect Auriculotemporal Syndrome
(Frey Syndrome) Si Usher oh! May B, D, G
- temporal bone anomalies in the cochlear aqueduct, ossicles,
semicircular canals (SCCs), and subarcuate fossa -localized flushing and sweating of
-Liver transplantation is a possible treatment the ear and cheek region in response to eating
-usually occurs after parotidectomy ~ parasympathetic fibers
Albers-Schnberg Disease of the ninth nerve innervate the sweat glands.
-aka osteopetrosis -estimated that 20% of the parotidectomies in children result
-genetic disorder in this disorder
-result in progressive increase in the density (but also increase
in weakness) of the bones in the skeletal system Avellis Syndrome
-three categories: -Unilateral paralysis of the larynx and velum palate
a. there is osteopetrosis with precocious manifestations -contralateral loss of pain and temperature sensitivity in the
b. osteopetrosis with delayed manifestations parts below the larynx
c. pyknodysostosis -caused by involvement of the nucleus ambiguus or the vagus
-mandible: long-term antibiotictherapy, multiple nerve along with the cranial portion of the ninth nerve
debridements, sequestrectomies, or even resection are possible
treatments. Babinski-Nageotte Syndrome
-caused by multiple or scattered lesions, chiefly in the
distribution of the vertebral artery.
Albright Syndrome
-Ipsilateral paralysis of the soft palate, larynx, pharynx, and
-Polyostotic fibrous dysplasia:
sometimes tongue
manifests early in life as multicentric
- ipsilateral loss of taste on the posterior third of the tongue
lesions involving the long bones and
-loss of pain and temperature sensation around the face
bones of the face and skull with
-cerebellar asynergia
scattered skin lesions similar to
-Horner syndrome with contralateral spastic hemiplegia and
melanotic caf au lait spots and
loss of proprioceptive and tactile sensation
precocious puberty in female patients
-Frequently: elevation of serum
Baelz Syndrome
alkaline phosphatase as well as
-Painless papules at the openings of the ducts of the mucous
endocrine abnormalities.
glands of the lips with free exudation of mucus
-Congenital and familial forms: precancerous.
-Acquired forms: benign and caused by irritating substances
Bannwarth Syndrome -Cysts in the jaw present only: maxilla and mandible, are
(Facial Palsy in Lymphocytic Meningoradiculitis) destructive to the bone
-benign form of acute unilateral or bilateral facial palsy that is -Basal cell epithelioma: excised as necessary
associated with: -Cysts in the jaw rarely recur after complete enucleation
lymphocytic reactions
increased protein level in the CSF with minimal, if Bayford-Autenrieth Dysphagia (Arkin Disease)
any, meningeal symptoms -Dysphagia lusoria is secondary to esophageal compression
-Symptoms: from an aberrant right subclavian artery
Neuralgic or radicular pain without facial palsy
unilateral or bilateral facial palsy of acute onset Beckwith Syndrome
-etiology: virus -Congenital disorder characterized by:
-Males are more often affected than females macroglossia
- greatest number of cases: August and September omphalocele,
hypoglycemia
Barany Syndrome pancreatic hyperplasia
-combination of noncystic renal hyperplasia
unilateral headache in cytomegaly of the fetal adrenal cortex
the back of the head,
periodic ipsilateral Behet Syndrome
deafness (alternating -nknown etiology
with periods of -periods of relapse and remission
unaffected hearing), -manifests:
vertigo As indolent ulcers of the mucous
tinnitus membrane and skin
-may be corrected by induced Sakit ng ulo ni Barney stomatitis
nystagmus Nahihilo kasi sya. anogenital ulceration,
iritis
Barclay-Baron Disease Conjunctivitis
-Vallecular dysphagia is present - No definitive cure is known,though steroids
help
Barre-Lieou Syndrome (cervical migraine)
-Occipital headache Besnier-Boeck-Schaumann Syndrome
- vertigo -Sarcoidosis is present
-tinnitus
-vasomotor disorders Bloom Syndrome
-facial spasm - due to irritation of the sympathetic plexus -autosomal recessive growth disorder
around the vertebral artery in rheumatic disorders of the -associated with:
cervical spine chromosomal breaks and rearrangements
unusually high rate of cancer at an early age
Barrett Syndrome facial erythema
-Esophagitis due to change in the epithelium of the esophagus growth retardation
immunodeficiency
Barsony-Polgar Syndrome infertility
-Diffuse esophageal spasm, caused by disruption of the sun sensitivity
peristaltic waves by an irregular contraction resulting: -diagnosis is confirmed by chromosome analysis
dysphagia -Less common characteristic:
regurgitation Anomalous numbers of digits or teeth,
-most commonly affects excitable elderly persons asymmetric legs
heart malformation
Basal Cell Nevoid Syndrome hypopigmented spots in blacks
-familial syndrome:nonsex linked and autosomal dominant protruding ears
with high penetrance and variable expressivity sacral dimple
-manifests early in life simian line
-appears: urethral or meatal narrowing
multiple nevoid basal cell epitheliomas of the skin -For head and neck tumor patients: increased chance of
cysts of the jaw secondary and primary tumors
abnormal ribs and metacarpal bones,
frontal bossing
dorsal scoliosis
-Endocrine abnormalities have been reported and it has been
associated with medulloblastoma
Bogorad Syndrome Briquet Syndrome
(syndrome of crocodile tears) shortness of breath
-residual facial paralysis aphonia due to hysteric paralysis of the diaphragm
with profuse lacrimation
during eating Brissaud-Marie Syndrome
-caused by a misdirection of -Unilateral spasm of the tongue and lips of an hysteric nature
regenerating autonomic
fibers to the lacrimal gland Brown Syndrome
instead of to the salivary - congenital or acquired abnormality of the superior oblique
gland muscle tendon characterized by:
vertical diplopia
Bonnet Syndrome inability to elevate the eye above midline or medial gaze
-Sudden trigeminal neuralgia accompanied by: - two types of Brown syndrome:
Horner syndrome true- always congenital
vasomotor disorders in the area supplied by the simulated- either congenital or acquired
trigeminal nerve - Congenital simulated type: caused by thickening of an area
in the posterior tendon or by the firm attachment of the
Bonnier Syndrome posterior sheath to the superior oblique tendon.
-caused by a lesion of Deiters nucleus and its connection. -Acquired simulated type: caused by inflammation extending
ocular disturbances from the adjacent ethmoid cells to the posterior sheath and
deafness tendon, an orbital floor fracture, frontal ethmoidal fracture,
nausea crush fracture of nasal bones, sinusitis, frontal sinus surgery,
thirst or surgical tucking of the superior oblique tendon.
anorexia
-other symptoms referable to involvement: Brun Syndrome
vagal centers, obstruction of CSF flow during positional changes of the head:
cranial nerves VIII, IX, X, and XI Vertigo
lateral vestibular nucleus headache
- can simulate Mnires disease vomiting
visual disturbances
Bourneville Syndrome -Main causes include:
-familial disorder cysts and cysticercosis of the fourth ventricle
polyps of the skin tumors of the midline cerebellum and third ventricle
harelip
moles Burckhardt Dermatitis
Spina bifida -dermatitis appears as an eruption of the external ear
Microcephaly -consists of red papules and vesicles that appear after
exposure to sunlight
Bowen Disease - rash: resolves spontaneously
- precancerous dermatosis characterized by:
development of pinkish or brownish Caffey Disease (Infantile Cortical Hyperostosis)
papules covered with a thickened horny layer -familial tendency
- Histologically: -onset: first year of life
hyperchromatic acanthotic cells with multinucleated hyperirritability
giant cells fever
Mitoses are frequently observed hard nonpitting edema that overlie the cortical
hyperostosis.
Branchio-Oto-Renal Syndrome -Pathologically, it involves the loss of periosteum with acute
-autosomal disorder characterized by anomalies of the inflammatory involvement of the intratrabecular bone and the
external, middle, and inner ear in association with: overlying soft tissue
preauricular tissues -Treatment :supportive, consisting of steroids and antibiotics.
branchial cleft anomalies -Prognosis-good
varying degrees of renal dysplasia, including aplasia -mandible-most frequently involved site
1. Conductive or mixed hearing loss
2. Cup-shaped, anteverted pinnae with bilateral preauricular Caisson Disease
sinuses -occurs in men and women who work in high air pressures and
3. Bilateral branchial cleft fistulas or sinuses are returned too suddenly to normal atmospheric pressure
4. Renal dysplasia -Similar symptoms may occur in fliers when they suddenly
-This syndrome is among a group of syndromes characterized ascend to high altitudes unprotected by counter pressure
by deformities associated with the first and second branchial - Results from the escape from solution in the body fluids of
complexes bubbles (mainly nitrogen) originally absorbed at higher
- precise incidence: unknown pressure
-Symptoms include: Carotid Sinus Syndrome
headache (Charcot-Weiss-Barber Syndrome)
pain in the epigastrium, sinuses, and tooth sockets -When the carotid sinus is abnormally sensitive, slight
itchy skin pressure on it causes a marked fall in blood pressure due to
vertigo vasodilation and cardiac slowing.
dyspnea syncope
coughing convulsions
nausea/vomiting heart block
Sometimes paralysis
-Peripheral circulatory collapse may be present Castleman Disease
-Nitrogen bubbles have been found in the white matter of the -localized nodal hyperplasia, angioatous lymph node
spinal cord hyperplasia, lymphoid hamartoma, giant lymph nodal
-can injure the inner ear through necrosis of the organ of Corti hyperplasia
-question of rupture of the round window membrane; -benign lymphoepithelial disease that is most often mistaken
hemotympanum and eustachian tube obstruction may occur for lymphoma.
tracheobronchial compression, such as cough,
Camptomelic Syndrome dyspnea, hemoptysis, or dysphagia
-Greek word meaning curvature of extremities -Masses in the neck- not uncommon
dwarfism, -two histologic types:
craniofacial anomalies, and hyaline vascular type : follicles are traversed by
bowing of the tibia and femur, with malformation of radially oriented capillaries with plump endothelial
other bones. cells and collagenous hyalinization surrounding the
-with cutaneous dimpling overlying the tibial bend vessel
-Respiratory distress-common, and the patient has an early plasma cell type: follicles are normalnin size w/out
demise in the first few months of life capillary proliferation or hyalinization
- otolaryngologic area: -Intermediate forms exist but are rare
prominent forehead -Treatment - complete excision of the mass
flat facies -Etiology- unknown
broad nasal bridge
low-set ears Cavernous Sinus Syndrome
cleft palate -cavernous sinus receives drainage from:
mandibular hypoplasia the upper lip
tracheobronchial malacia nose
contributes to the respiratory distress and sinuses
neonatal death nasopharynx
-Histologically: two temporal bone observations showed pharynx
defective endochondral ossification with no cartilage cells in orbits
the endochondral layer of the otic capsule -drains into the inferior petrosal sinus, which in turn drains
-cochlea: shortened and flattened, presenting a scalar into the internal jugular vein.
communis -caused by thrombosis of the cavernous intracranial
-vestibule and the SCC- deformed by bone invasion sinus, 80% of which is fatal
-unknown etiology, although some believe it is autosomal orbital pain (V1) with venous congestion of the
recessive. Others due to an exogenous cause retina, lids, and conjunctiva
-not to be confused with Pierre Robin syndrome, which eyes are proptosed with exophthalmos.
presents with very similar clinical features photophobia
involvement of nerves II, III, IV, and V1
Cannon Nevus ophthalmic vein and artery are involved as well. (The
-autosomal dominant nerves and veins are lateral to the cavernous sinus,
-spongy white lesions of the oral and nasal mucosa. and the internal carotid artery is medial to it.)
-asymptomatic and may be found from the newborn -treatment of choice - anticoagulation and antibiotics.
period with increasing severity until adolescence -MC cause of cavernous sinus thrombosis ethmoiditis
keratosis
acanthosis Cestan-Chenais Syndrome
parakeratosis -caused by occlusion of the vertebral artery below the point of
origin of the posteroinferior cerebellar artery
Carcinoid Syndrome paralysis of the soft palate, pharynx, and larynx
episodic flushing Ipsilateral cerebellar asynergia
diarrhea Horner syndrome
ascites contralateral hemiplegia
-secretes serotonin diminished proprioception and tactile sensation
-Treatment - wide excision
-positive dopa reaction
Champion-Cregah-Klein Syndrome Cockayne Syndrome
-familial syndrome -Autosomal recessive
popliteal webbing -progressive bilateral sensorineural hearing loss
cleft lip dwarfism
cleft palate facial disharmony
lower lip fistula microcephaly
syndactyly mental deficiency
onychodysplasia retinitis pigmentosa
pes equinovarus optic atrophy
intracranial calcification
Chapple Syndrome multiple dental caries
-seen - newborn with unilateral facial weakness or paralysis in -Patients succumb to respiratory or genitourinary infection in
conjunction with: the teens or twenties
comparable weakness or paralysis of the contralateral
vocal cord, the muscles of deglutition or both Cogan Syndrome
-secondary to lateral flexion of the head in utero, which Nonsyphilitic interstitial keratitis
compresses the thyroid cartilage against the hyoid or cricoid vestibuloauditory
cartilages or both, thereby injuring: -Interstitial keratitis gives rise to rapid visual loss
recurrent -Symptoms include:
or superior laryngeal nerve Episodic severe vertigo accompanied by:
or both tinnitus
spontaneous nystagmus
Charcot-Marie-Tooth Disease ataxia
-hereditary and degenerative disease that includes: progressive sensorineural hearing loss
olivopontocerebellar -There are remissions and exacerbations.
cerebelloparenchymal -related to periarteritis nodosa
spinocerebellar disorders -Eosinophilia noted
neuropathies degeneration of the vestibular and spiral ganglia with
chronic degeneration of the peripheral nerves and roots edema of the membranous cochlea, SCCs, and
distal muscle atrophy in feet, legs, and hands inflammation of the spiral ligament.
Deep tendon reflexes are usually nil -Treatment:
Associated with hereditary cerebellar ataxia features, steroids has been advocated.
optic atrophy, and other cranial involvement. Cyclophosphamide and azathioprine have been used
-can be progressive in addition to prednisone (40 mg daily).
-can also spontaneously arrest -not to be confused with Mnires disease despite vertiginous
symptoms and fluctuating hearing loss.
Chdiak-Higashi Syndrome -Vogt-Koyanagi-Harada syndrome is also similar but involves:
-autosomal recessive trait alopecia
albinism poliosis
photophobia exudative uveitis
nystagmus -Syphilis is also confused with this syndrome, but in syphilis
hepatosplenomegaly the interstitial keratitis is old and usually does not
anomalous cellular granules demonstrate active inflammatory changes
development of lymphoma Syphilitic involvement of the cornea is often centrally
- patients usually die during childhood of fulminant infections located.
-Follow-up treatment of patients must be thorough in order to
Cleft Lip Palate and Congenital Lip Fistulas detect more extensive involvement, such as:
-autosomal dominant manner with 80% penetrance systemic vasculitis or aortitis
-occurs in 1 per 100,000 live births
-Usually bilateral, symmetrically located depressions Collet-Sicard Syndrome
are noted on the vermilion portion of the lower lip and - ninth, tenth, and eleventh nerves are involved with normal
communicate with the underlying minor salivary glands sympathetic nerves.
-lip pits may be an isolated finding (33%) or be found with -etiology - meningioma or other lesion involving the nerves in
cleft lip palate (67% of cases). the posterior cranial fossa
-Associated anomalies of the extremities may include:
talipes Conradi-Hnermann Syndrome
equinovarus, - aka chondrodystrophia epiphysialis punctata, stippled
syndactyly epiphysis disease, dysplasia epiphysialis punctata,
popliteal pterygia chondroangiopathia calcarea punctata, and Conradi disease
-Congenital lip pits have also been seen in association with the -most common variant of chondrodysplasia punctata
oral-facial-digital syndrome -characterized by punctate epiphyseal calcifications
saddle nose deformity
micromelia -familial syndrome
rhizomelia -characterized by:
short stature adenoid facies, hypoplasia of the mandible and
flexion contractures maxilla
dermatoses high-arched palate
hypoplasia of the soft palate and uvula
Costen Syndrome microstomia
-Temporomandibular joint (TMJ) abnormality Papillomatosis of the lips and pharynx
-due to impaired bite and characterized by: scrotal tongue
tinnitus multiple thyroid adenomas
vertigo bilateral breast hypertroph
pain in the frontal, parietal, and occipital areas with a pectus excavatum
blocked feeling liver and CNS abnormalities
pain in the ear
-After a careful workup to rule out other abnormalities, Creutzfeldt-Jakob Disease
-Treatent -aspirin, heat, and slow exercise of the joint - rare spongiform encephalopathy
- Orthodontist may help the patient -Constitutional symptoms lead to mental retardation
-TMJ differs from other joints by the presence of avascular and movement disorder
fibrous tissue covering the articulating surfaces with an
interposed meniscus dividing the joint into upper and lower Cri du Chat Syndrome
compartments. -caused by a B group chromosome with a short arm
-Right and Left TMJs act as one functional unit mental retardation
-The condyle: respiratory stridor
is made up of spongy bone with marrow microcephaly
and a growth center hypertelorism
articulates with the glenoid fossa of the temporal midline oral clefts
bone (squamosa) laryngomalacia with poor approximation of the
-The squamotympanic fissure separates the fossa from the posterior vocal cords
tympanic bone
-The joint is a ginglymoarthrodial joint with hinge and Curtius Syndrome
transverse movements. - aka congenital hemifacial hypertrophy
- Key supporting ligament of the TMJ -Temporomandibular -is a form of hypertrophy that may involve a single small part
ligament of the body or an entire system
-Boundaries of the glenoid fossa are:
Anterior: Margins of the articular eminence Dandy Syndrome
Posterior: Squamosotympanic fissure Oscillopsia or jumbling of the panorama common in
Lateral: Zygomatic process of the temporal bone patients after bilateral labyrinthectomy
Medial: Temporal spine -patients are unable to focus while walking or moving.
-TMJ derives its nourishment from the synovial membrane,
which is richly vascularized and produces a mucinous-like Darier Disease (Keratosis Follicularis)
substance -Autosomal dominant
-Joint has: - skin disorder- external auditory canal is characterized by:
gliding motion between the meniscus and the keratotic debris in the canal
temporal bone (upper compartment) -some advocated the use of vitamin A or steroids
hinge motion between the disk and the condyle
(lower compartment). DeJean Syndrome
- innervated by: - orbital floor
auriculotemporal nerve Exophthalmos
masseter nerve diplopia
lateral pterygoid nerve superior maxillary pain
temporal nerve numbness along the route of the trigeminal nerve
-supplied by:
superficial temporal artery Djrine Anterior Bulbar Syndrome
anterior tympanic branch of the internal maxillary -thrombosis of the anterior spinal artery resulting in either:
artery alternating hypoglossal hemiplegia
- lateral pterygoid muscle- protracts the jaw and the masseter or an alternating hypoglossal hemianesthetic
-medial pterygoid and temporalis muscles act as elevators hemiplegia
-All these muscles are innervated by V3
-sphenomandibular and stylomandibular ligaments - no Dermarquay-Richet Syndrome
function in TMJ articulation -congenital orofacial disorder characterized by:
cleft lip
Cowden Syndrome cleft palate
lower lip fistulas -Carotidynia may result from impingement of the styloid
progeria facies process on the carotid artery, producing regional tenderness or
Defective dentition headaches.
heart defects -Only effective tx- surgical shortening of the styloid process.
dwarfism
finger abnormalities Ectodermal Dysplasia, Hypohidrotic
- X-linked recessive.
DIDMOAD Syndrome hypodontia
-autosomal recessive disorder associating: hypotrichosis
diabetes insipidus hypohidrosis
diabetes mellitus - Principally structures involved - ectodermal origin
optic atrophy -Eyelashes and especially eyebrows are entirely missing
deafness -Eczema and asthma are common
- DM is usually juvenile in onset and insulin dependent - Aplasia of the eccrine sweat glands may lead to severe
- Diabetes insipidus has a varied time of onset and is hyperpyrexia
vasopressin sensitive, indicative of degeneration of the
hypothalamic cells or of the supraopticohypophy- seal tract 18q Syndrome
-hearing loss - sensorineural and progressive, and primarily psychomotor retardation
affects the higher tones hypotonia
- Urinary tract abnormalities ranging from atonic bladder to short stature
hydronephrosis and hydroureter have been reported with this microcephaly
disorder. hypoplastic midface
epicanthus
DiGeorge Syndrome ophthalmologic abnormalities
Lischaneri reported three categories of this syndrome: cleft palate
1. Third and fourth pharyngeal pouch syndrome, characterized congenital heart disease
by cardiovascular and craniofacial anomalies as well as abnormalities of the genitalia
abdominal visceral abnormalities tapered fingers
2. DiGeorge syndrome (thymus agenesis) aural atresia
3. Partial DiGeorge syndrome (thymic hypoplasia in which the Conductive hearing loss
thymus gland weighs less than 2 g)
-patients have: Eisenlohr Syndrome
small malformed pinnae with narrow external Numbness and weakness in the extremities
auditory canals and abnormal ossicles paralysis of the lips, tongue, and palate
shortened cochlea of the Mundini type as well as an dysarthria
absence of hair cells in the hook region
hypertelorism with nasal cleft, shortened philtrum, Elschnig Syndrome
and micrognathia. Extension of the palpebral fissure laterally
-Other middle ear anomalies include: displacement of the lateral canthus
absence of stapedial muscle ectropion of the lower lid
hypoplastic facial nerve lateral canthus
absent oval window
-Most of the findings are symmetrical Empty Sella Syndrome
-Enlarged sella -giving the appearance of a pituitary tumor
Dysphagia Lusoria -Air encephalogram - empty sella
-secondary to an abnormal right subclavian artery abnormal extension into the sella turcica of an
- right subclavian arises abnormally from the thoracic aorta by arachnoid diverticulum filled with CSF, displacing
passing behind or in front of the esophagus, compressing it. and compressing the pituitary gland
-Four causal theories of this syndrome exist:
Eagle Syndrome (1) rupture of an intrasellar or parasellar cyst
elongation of the styloid process or ossification of the (2) infarction of a pituitary adenoma
stylohyoid ligament causing irritation: (3) pituitary hypertrophy and subsequent involution
trigeminal n (4) the most common theory, the syndrome is due to CSF
facial n pressure through a congenitally deficient sella diaphragm
glossopharyngeal n leading to the formation of an intrasellar arachnoidocele.
vagus nerves -Treatment : trans-septal or trans-sphenoidal route to the sella
recurrent nonspecific throat discomfort, -Primary empty sella syndrome -due to congenital absence
foreign body sensation of the diaphragm sella, with gradual enlargement of the sella
dysphagia secondary to pulsations of the brain.
facial pain -Secondary empty sella syndrome -due to necrosis of an
increased salivation existing pituitary tumor after surgery, postirradiation directed
at the pituitary, or pseudotumor cerebri.
Face-Hand Syndrome Fothergill Disease
-Reflex sympathetic dystrophy that is seen after a stroke or tic douloureux and
myocardial infarction anginose scarlatina
-edema and erythema of the involved parts along with
persistent burning Foville Syndrome
Facial paralysis with ipsilateral paralysis of conjugate gaze
Fanconi Anemia Syndrome contralateral pyramidal hemiplegia
aplastic anemia with skin pigmentation, -Infranuclear involvement:
skeletal deformities, Tinnitus
renal anomalies, and deafness
mental retardation. vertigo
- Death due to leukemia usually ensues within 2 years -Nervus intermedius involvement: Loss of taste of the anterior
-spontaneous bleeding and other congenital anomalies. two-thirds of the tongue with decreased salivary and lacrimal
bleeding time is prolonged secretions
platelet count is decreased
bone marrow megakaryocytes vary from decreased Frey Syndrome
to absent -aka preauricular gustatory sweating
-Associated with unrepaired chromosome breakage -MC etiology: parotidectomy
-Congenital anomalies of the inner, middle, and external ear -After parotidectomy - auriculotemporal nerve sends its
could be causes of the deafness parasympathetic fibers to innervate the sweat glands instead.

Felty Syndrome Friedreich Disease


leukopenia facial hemihypertrophy involving the eyelids, cheeks,
arthritis lips, facial bones, tongue, ears, and tonsils
enlarged lymph nodes and spleen.
Garcin Syndrome
First and Second Branchial Arch Syndromes Paralysis of cranial nerves III through X, usually
(Hemifacial Microsomia, Lateral Facial Dysplasia) unilateral or occasionally bilateral
-Consists of a spectrum of craniofacial malformations -Result of invasion by neoplasm, granulomas, or infections in
asymmetric facies with unilateral abnormalities the retropharyngeal space.
mandible is small with hypoplastic or absent ramus
and condyle Gard-Gignoux Syndrome
Aural atresia paralysis of the eleventh nerve and the tenth nerve
hearing impairment below the nodoseganglion
tissue tags from the tragus to the oral commissure cricothyroid function and sensation are normal
coloboma of the upper eyelid vocal cord paralysis and weakness of the trapezius
malar hypoplasia and sternocleidomastoid muscles
cleft palate
Cardiovascular, renal, and nervous system Gardner Syndrome
abnormalities have been noted -Autosomal dominant
fibroma, osteoma of the skull, mandible, maxilla, and
Fish Odor Syndrome long bones, with epidermoid inclusion cysts in the
-Clinical symptoms of this peculiar syndrome -fish odor skin and polyps in the colon
emanating from the mucus, particularly in the morning -Colonic polyps -marked tendency toward malignant
-DIAGNOSTIC: Challenge test with either choline bitartrate degeneration.
or trimethylamine
-Eating noncholine-containing foods usually helps Gaucher Disease
-Autosomally recessive inherited disorder of lipid metabolism
Fordyce Disease -Results in a decrease activity of the glucocerebrosidase.
- pseudocolloid of the lips, a condition marked by the presence -Leads to an increased accumulation of glucocerebrosides,
of numerous, small yellowish-white granules on the inner particularly in the retroendothelial system
surface and vermilion border of the lips -Three classifications
- Histologically- lesions appear as ectopic sebaceous glands (1) Chronic non-neuronopathic form- characterized by:
joint pain,
Foster Kennedy Syndrome aseptic necrosis
ipsilateral optic atrophy pathologic fractures
scotomas hepatosplenomegaly
contralateral papilledema occurring with tumors or thrombocytopenia
other lesions of the frontal lobe or sphenoidal anemia
meningioma. leukopenia
Anosmia may be seen (2) Acute neuronopathic Gaucher disease (infantile form)
-causing increased neurologic complications that often end in Gradenigo Syndrome
death before the first 2 years of life -Due to an extradural abscess involving the petrous bone
(3) Juvenile and less severe forms than the infantile form suppurative otitis
pain in the eye and temporal area
Gerlier Disease abducens paralysis
-With the presence of vertigo and kubisagari, it is observed diplopia
among cowherds.
pain in the head and neck with visual disturbances, Grisel Syndrome (nasopharyngeal torticollis)
ptosis - subluxation of the atlantoaxial joint
generalized weakness of the muscles. - usually associated with children
pharyngitis
Giant Apical Air Cell Syndrome nasopharyngitis
giant apical air cells adenotonsillitis
spontaneous CSF rhinorrhea tonsillar abscess
recurrent meningitis parotitis
-caused by the constant pounding of the brain against the dura cervical abscess
overlying the giant apical air cell, which leads to dural rupture otitis media
and CSF leak. - Known to occur after :
nasal cavity inflammation
Gilles de la Tourette Syndrome tonsillectomy
chorea adenoidectomy
coprolalia mastoidectomy
tics of the face and extremities choanal atresia repair
-affects children (usually boys 5-10 years old) excisions of a parapharyngeal rhabdomyosarcoma
Repetitive facial grimacing -Etiology include:
blepharospasms overdistention of the atlantoaxial joint ligaments by
arm and leg contractions effusion
Compulsive grunting noises or hiccupping rupture of the transverse ligament
subsequently become expressions of frank excessive passive rotation during general anesthesia
obscenities. uncoordinated reflex action of the deep cervical
muscles
Goldenhar Syndrome spasm of the prevertebral muscles
-rare, nonhereditary congenital variant of hemifacial ligamentous relaxation from decalcification of the
microsomia, vertebrae
-congenital syndrome of the first and second arch weak lateral ligaments
underdevelopment of craniofacial structures - Clinical features include:
vertebral malformations spontaneous torticollis in a child
cardiac dysfunction flexed and rotated head with limited range of motion
malar and maxillary hypoplasia flat face
poor formation of external auditory canal Sudeck sign (displacement of the spine of the axis to
supernumerary ear tags and antetragal pits the same side as the head is turned)
orbit, -Treatment includes: skeletal skull traction under fluoroscopic
enlarged mouths control to realign the odontoid process within the transverse
renal anomalies ligament sling, followed by 6 to 12 weeks of immobilization.
missing growth centers in the condyle, causing -Timely treatment is usuallysuccessful.
delayed eruption of teeth and teeth crowding.
Intelligence is usually normal or mildly retarded Guillain-Barr Syndrome
-Maxillofacial reconstruction- young patients demands -Infectious polyneuritis of unknown etiology (perhaps viral)
consideration of future growth and development. marked paresthesias of the limbs
-It is also recommended for psychologic reasons as well as muscular weakness
reasons involving the proper expansion of the skin that will flaccid paralysis
later aid in further reconstruction. -CSF protein is increased without an increase in cell count.
-This syndrome is not to be confused with Treacher Collins,
Berry, or Franceschetti-Zwahlen-Klein syndromes they tend to Hallermann-Streiff Syndrome
show well-defined genetic patterns (irregular but dominant), dyscephaly
whereas Goldenhar syndrome does not. parrot nose
mandibular hypoplasia
Goodwin Tumor (Benign Lymphoepithelial Lesion) proportionate nanism
inflammatory cells hypotrichosis of scalp, brows, and cilia
lymphocytes bilateral congenital cataracts
plasma cells -Most patients exhibit nystagmus or strabismus
reticular cells -There is no demonstrable genetic basis
2. Facial paralysis, otalgia, and aural herpes due to disease of
Hanhart Syndrome both motor and sensory fibers of the seventh nerve
-Form of facial dysmorphi 3. A form of juvenile paralysis agitans associated with primary
(1) bird-like profile of face caused by micrognathia atrophy of the pallidal system
(2) opisthodontia
(3) peromelia Hunter Syndrome
(4) small growth -Hereditary and sex-linked disorder
(5) normal intelligence -Incurable syndrome involves multiple organ systems
(6) branchial arch deformity resulting in conductive hearing loss through mucopolysaccharide infiltration
(7) tongue deformities and often a small jaw - Death- usually by the second decade of life- often caused by an
(8) possibly some limb defects as well. infiltrative cardiomyopathy and valvular leading to heart failure
-Ear surgery should be carefully considered because of the prominent supraorbital ridges
abnormal course of the facial nerve due to this syndrome. large flattened nose with flared nares
low-set ears
Heerfordt Syndrome or Disease progressive corneal opacities
-Patient develops uveoparotid fever generous jowls
- Is a form of sarcoidosis patulous lips and prognathism,
short neck
Hick Syndrome abdominal protuberance
- rare condition hirsutism
- sensory disorder of the lower extremities resulting in short stature
perforating feet and by ulcers that are associated with extensive osteoarthritis (especially in the hips,
progressive deafness due to atrophy of the cochlear and shoulders, elbows, and hands),
vestibular ganglia. TMJ arthritis
pseudopapilledema
Hippel-Lindau Disease low-pressure hydrocephalus
angioma of the cerebellum, usually cystic, associated Chondroitin sulfate B and heparitin in urine
with angioma of the retina and polycystic kidneys. mental retardation,
beta-galactoside deficiency
Hollander Syndrome hepatosplenomegaly
-Appearance of a goiter during the third decade of life related -Cerebral storage of three gangliosides: GM1, GM2, and GM3.
to a partial defect in the coupling mechanism in thyroxine -Compressive myelopathy may result from vertebral dislocation .
biosynthesis. -High spinal cord injury- great complication in surgery
- Deafness due to cochlear abnormalities -Neurologic development is often slowed or never acquired
-Abdominal abnormalities, respiratory infections, and
Homocystinuria cardiovascular troubles plague the patient.
-Recessive hereditary syndrome secondary to a defect in
methionine metabolism with resultant: Immotile Cilia Syndrome
homocystinemia -Congenital defect in the ultrastructure of cilia that renders
mental retardatio them incapable of movement
sensorineural hearing loss -Both respiratory tract cilia and sperm are involved
bronchiectasis
Horner Syndrome sinusitis
ptosis male sterility
miosis situs inversus
anhidrosis otitis media
enophthalmos due to paralysis of the cervical -Histologically -complete or partial absence of dynein arms,
sympathetic nerves. which are believed to be essential for cilia movement and
sperm tail movement.
Horton Neuralgia - No cilia movements were observed in the mucosa of the
-Patients have unilateral headaches centered behind or close to middle ear and the nasopharynx.
the eye accompanied or preceded by:
ipsilateral nasal congestion Inversed Jaw-Winking Syndrome
suffusion of the eye -Supranuclear lesions of the fifth nerve, touching the cornea
increased lacrimation may produce a brisk movement of the mandible to the
facial redness, and swelling opposite side.

Hunt Syndrome Jackson Syndrome


1. Cerebellar tumor- intention tremor that begins in one -Cranial nerves X, XI, and XII are affected by nuclear or
extremity gradually increasing in intensity and subsequently radicular lesion.
involving other parts of the body ipsilateral flaccid paralysis of the soft palate,
pharynx, and larynx
with weakness and atrophy of the Kartagener Syndrome
sternocleidomastoid and trapezius muscles and -aka kartagener triad
muscles of the tongue. complete situs inversus associated with chronic
sinusitis and
Jacod Syndrome bronchiectasis
total ophthalmoplegia -Cilia and flagella of patient lack normal dynein side arms of
optic tract lesions with unilateral amaurosis, ciliary A-tubes.
trigeminal neuralgia -Deficient mucociliary transport causes sterility in both sexes
-caused by a middle cranial fossa tumor involving the second
through sixth cranial nerves. Keratosis Palmaris et Solaris
-Unusual inherited malformation
Job Syndrome - If these people live to 65 years of age, 50% to 75% of them
-One of the group of hyperimmunoglobulin E (hyper-IgE) develop carcinoma of the esophagus.
syndromes that are associated with defective chemotaxis.
fair skin Kimura Disease
red hair -first described by Kimura et al in 1949 as a chronic
recurrent staphylococcal skin abscesses with inflammatory condition occurring in:
concurrent other bacterial infections and skin lesions subcutaneous tissues
chronic purulent pulmonary infections salivary glands
infected eczematoid skin lesions lymph nodes
-Obtained its name from the Biblical passage referring to Job -Etiology- unknown
being smitten with boils. dense fibrosis
-It is of interest to the otolaryngologist because of head and lymphoid infiltration
neck infections. vascular proliferation
eosinophils
Jugular Foramen Syndrome (Vernet Syndrome) -Different from angiolymphoid hyperplasia with eosinophilia
-Cranial nerves IX, X, and XI are paralyzed, whereas XII is (ALHE). It is much more prevalent in people of Oriental
spared because of its separate hypoglossal canal. descent.
-Horner syndrome - not present because the sympathetic chain eosinophilia
is below the foramen. This syndrome is most often elevated IgE
-caused by lymphadenopathy of the nodes of Krause in the - Differential diagnosis:
foramen., ALHE
Thrombophlebitis eosinophilic granuloma
tumors of the jugular bulb benign lymphoepithelial lesion
basal skull fracture lymphocytoma
-Glomus jugulare - gives a hazy margin of involvement pyogenic granuloma
-Neurinoma - gives a smooth, sclerotic margin of enlargement Kaposi sarcoma
-Jugular foramen is bound: hamartoma
medially -occipital bone lymphoma
laterally -the temporal bone -Treatment:
-Foramen is divided into: corticosteroids
anteromedial (par nervosa) cryotherapy
posterolateral(par vasculara) areas by a fibrous or radiation
bony septum. surgery
-Medial area transmits- nerves IX, X, and XI as well as the -Differences between Kimura disease and ALHE are as
inferior petrosal sinus follows:
-Posterior compartment transmits- internal jugular vein and Kimura Age: 30-60 (ALHE age 20-50)
the posterior meningeal artery Sex: Male (ALHE female)
-Right foramen is usually slightly larger than the left foramen Larger lesions (ALHE < 1 cm)
Deep (ALHE superficial)
Kallmann Syndrome More lymphoid follicles than ALHE
- congenital hypogonadotropic eunuchoidism with anosmia Fewer mast cells than ALHE
-transmitted via a dominant gene with variable penetrance Less vascular hyperplasia than ALHE
More fibrosis than ALHE
Kaposi Sarcoma More eosinophilia than ALHE
- multiple idiopathic More IgE than ALHE
hemorrhagic sarcomatosis particularly of the skin
and viscera. Kleinschmidt Syndrome
-Treatment of choice:Radiotherapy influenzal infections resulting in laryngeal stenosis
suppurative pericarditis
pleuropneumonia
occasionally meningitis
Klinefelter Syndrome -Sex chromosome defect -Young adults first presenting with oropharynx infection,
eunuchoidism progress to neck and parapharyngeal abscess, leading to
azoospermia internal jugular and sigmoid sinus thrombosis leading to septic
gynecomastia embolism causing:
mental deficiency septic arthritis
small testes with atrophy liver and splenic abscess
hyalinization of seminiferous tubules -Sigmoid sinus thrombosis findings include:
-The karyotype XXY headache
otalgia
Klinkert Syndrome vertigo
-Paralysis of the recurrent and phrenic nerves due to a vomiting
neoplastic process in the root of the neck or upper otorrhea and rigors
mediastinum is evidenced proptosis
- Sympathetics may be involved retrobulbar pain
-(Left-side involvement is more common than right-side papilledema
involvement.) ophthalmoplegia
-Can be a part of Pancoast syndrome
Lermoyez Syndrome
Lacrimoauriculodentodigital Syndrome -A variant of Mnires disease
-Autosomal dominant - first described by Lermoyez in 1921 As deafness and
occasional middle ear ossicular anomaly with cup- tinnitus followed by a vertiginous attack that relieved the
shaped ears tinnitus and improved the hearing.
abnormal or absent thumbs
skeletal forearm deformities Lethal Midline Granuloma Syndrome
sensorineural hearing loss -Destroying:
nasolacrimal duct obstruction cartilage
soft tissue
Large Vestibular Aqueduct Syndrome bone
-Large vestibular aqueduct as an isolated anomaly of the -Manifests itself by:
temporal bone is associated with sensorineural hearing loss idiopathic midline destructive disease,
-More common in childhood than in adulthood. Wegener granulomatosis,
-Rugose portion of the endolymphatic sac is also enlarged Polymorphic reticulosis,
-Endolymphatic sac procedures - improve hearing are not nasal lymphoma, and
often successful non-Hodgkin lymphoma (NHL).
-Vestibular aqueduct is considered enlarged- if -Treatment:
anteroposterior diameter on computed tomography (CT) scan Localized cases - High-dose local radiation totaling
is greater than 1.5 mm. 5000 rad
Disseminated cases- Chemotherapy involving an
Larsen Syndrome alkylating agent (cyclophosphamide)
widely spaced eyes
prominent forehead Lffler Syndrome
flat nasal bridge -Consists in pneumonitis characterized by eosinophils in the tissues
midline cleft of the secondary palate -Possibly Parasitic etiology.
bilateral dislocation of the knees and elbows
deformities of the hands and feet Loose Wire Syndrome
spatula-type thumbs -Occurs in patients with stapedectomy and insertion of a
-sometimes present: prosthesis that attaches to the long process of the incus by
tracheomalacia means of a crimped wire
stridor - Late complication- occurring on an average 15 years after surgery.
laryngomalacia - triad of symptoms is present that improves temporarily with
respiratory difficulty middle ear inflation:
-Therapy maintaining adequate ventilation auditory acuity
distortion of sound
Lemierre Syndrome speech discrimination
- -caused : anaerobic, nonmotile gramnegative rod, -Treatment in revision surgery involves- finding the loose
Fusobacterium necrophorum can be found in normal flora wire attachmentat the incus and tightening that wire to allow
of oropharynx, gastrointestinal (GI), female genital tract the incus and prosthesis to move as one.
- Sensitive to:
clindamycin and Louis-Bar Syndrome -Autosomal recessive
metronidazole ataxia
penicillin oculocutaneous telangiectasia
chloramphenicol. sinopulmonary infection
- It involves: -Valium and other derivatives (particularly Klonopin) -
progressive truncal ataxia, alleviate some of the severe symptoms but there is always a
slurred speech worry that these are habit forming and may prolong the
fixation nystagmus, eventual disappearance of the condition.
mental deficiency -In general- physical activity is recommended for vestibular
cerebellar atrophy rehabilitation.
deficient immunoglobulin
marked frequency of lymphoreticular malignancies Marcus Gunn Syndrome (Jaw-Winking Syndrome)
-Patient rarely lives past age 20 -Result in an increase in the width of the eyelids during
chewing
Maffucci Syndrome - Patient experiences rhythmic:
-Characterized by multiple cutaneous hemangiomas with elevation of the upper eyelid when mouth is open
dyschondroplasia and often enchondroma ptosis when the mouth is closed
- origin is unknown and not hereditary.
- S/S of this syndrome usually appear during infancy Marie-Strmpell Disease
-Equally affects both sexes and no racial preference -Rheumatoid arthritis of the spine
-dyschondroplasia may cause:
sharp bowing or an uneven growth of the extremities Masson Tumor
frequent fractures -Intravascular papillary endothelial hyperplasia caused by
- 5%-10% patients have head and neck involvement giving excessive proliferation of endothelial cells.
rise: -Benign condition
cranial nerve dysfunction -Differential diagnosis:
hemangiomas in the head and neck area. angiosarcoma
-The hemangiomas in the nasopharynx and larynx cause: Kaposi sarcoma
airway compromise as well as deglutition problems pyogenic granuloma
-15%-20% of these patients later undergo sarcomatous
degeneration in one or more of the enchondromas. Melkersson-Rosenthal Syndrome
-Percentage of malignant changes is greater in older patients, -aka orofacial granulomatosis, cheilitis granulomatosis,
with the percentage of malignant degeneration approaching Scheuermann glossitis granulomatosis, Miescher cheilitis
44% in patients more than age 40. Triad:
-Not to be confused with Klippel-Trenaunay syndrome, which Recurrent orofacial swelling
causes no underdeveloped extremities, Sturge-Weber one or more episodes of facial paralysis
syndrome, or von Hippel-Lindau syndrome. linguaplicata
-No treatment ,although surgical procedures to treat the -Congenital disease of unknown etiology
actual deformities are sometimes necessary. -Manifests as recurring attacks:
unilateral or bilateral facial paralysis
Mal de Debarquement Syndrome (MDDS) swelling of the lips
-An imbalance or rocking sensation that occurs after furrowing of the tongue
prolonged exposure to motion (most commonly after a sea -Associated with high serum levels of angiotensin-converting
cruise or a longairplane flight). enzyme during affliction
-Travelers often experience this sensation temporarily after -Treatment -focus on facial paralysis and edema.
disembarking, but in the case of MDDS sufferers it can persist
for 6 to 12 months or even many years in some cases. Meyenburg Syndrome (Familial Myositis Fibrosa
-The imbalance is generally NOT associated with any nausea, Progressiva)
NOR is it alleviated by typicalmotion sickness drugs such as -Striated muscles are replaced by fibrosis
scopolamine or meclizine. -Fibrosarcoma rarely originates from this disease
-Symptoms are usually most pronounced when the patient is
sitting still Middle Lobe Syndrome
- Sensations are usually minimized by actual motion such as -Is a chronic atelectatic process with fibrosis in one or both
walking or driving, segments of the middle lobe
- Nobody knows the functional cause of MDDS - Usually secondary to obstruction of the middle lobe
- Not an injury to the ear or brain (vestibular and CNS tests for bronchus by hilar adenopathy
MDDS patients invariably turn out normal results). - Hilar adenopathy may be transient, but the bronchiectasis
Speculation about the cause of MDDS includes the following: that resulted persists.
Psychiatric condition (particularly linked to depression) -Treatment - surgical resection.
A hormonal-related condition (may occur more often in
females) Mikulicz Disease
Otolith organ or CNS abnormalities - (swelling of the lacrimal and salivary glands) occur as
some link to a variant of migraine complications of some other disease, such as:
-Diagnosis -generally a process of exclusion. Lymphocytosis
-Medical literature describes MDDS as self-limiting condition. leukemia
uveoparotid fever
Millard-Gubler Syndrome
ipsilateral paralysis of the abducens and facial nerves
with contralateral hemiplegia of the extremities
-due to obstruction of the vascular supply to the pons.

Mbius Syndrome
-Nonprogressive congenital facial diplegia (usually bilateral) with
unilateral or bilateral loss of the abductors of the eye
anomalies of the extremities
aplasia of the brachial and thoracic muscles.
-The etiology could be:
CNS hypoplasia,
primary peripheral muscle defect with secondary
nerve degeneration
Lower motor neuron involvement.

Morgagni-Stewart-Morel Syndrome
-Occurs in menopausal women
obesity
dizziness
psychologic disturbances
inverted sleep rhythm
hyperostosis frontalis interna
-Treatment- supportive.

Multiple Endocrine Adenomatosis


Multiple Endocrine Adenomatosis Type IIA (Sipple Syndrome)
-Familial syndrome consisting of:
medullary carcinoma of the thyroid
hyperparathyroidism
pheochromocytoma

Multiple Endocrine Adenomatosis Type IIB (MEA):


multiple mucosal neuromas,
pheochromocytoma, medullary carcinoma of the thyroid
hyperparathyroidism.
-Inherited in an autosomal dominant pattern
- Mucosal neuromas principally involve:
lips and anterior tongue.
-Numerous white medullated nerve fibers traverse the cornea
to anastomose in the pupillary area.

Munchausen Syndrome
-Named after Baron Hieronymus Karl Freidrich von
Mnchausen (1720-1791) by Asher in 1951. The integral
features of this syndrome are:
1. A real organic lesion from the past that has left some
genuine signs but is causing no organic symptoms.
2. Exorbitant lying with dramatic presentation of nonexistent
symptoms.
3. Traveling widely with multiple hospitalizations.
4. Criminal tendencies.
5. Willingness to undergo painful and dangerous treatment.
6. Presenting challenging illnesses for treatment.
7. Unruly behavior during hospital stays and early self
discharge without prior approval.
8. Patients often inflict pain on their own children and forcibly
create symptoms to indirectly receive hospital treatment.
-Patients usually go from one medical center to another to be
admitted with dramatic presentations of nonorganic symptoms
related to a real organic lesion on the past medical history
Takayasu Disease Toxic Shock Syndrome
Aka pulseless disease and aortic arch syndrome prolonged nasal packing & staphylococcal infection of surgical
narrowing of the aortic arch and its branches wounds
autoimmune disorder Symptoms
unknown etiology (UE) fever, rash, hypotension, mucosal hyperemia,
Sx originate in the head and neck area vomiting, diarrhea, laboratory evidence of
sensorineural hearing multiorgan dysfunction, and desquamation during
sssoc. with B-cell alloantigens DR4 and MB3 recovery.
Treatment Tx: Single-dose antimicrobial prophylaxis
Steroid screening for toxic shock syndrome toxin (TSST)-1producing
Cyclophosphamide Staphylococcus aureus--points out high-risk patients
Surgery (during the inactive phase of the dse)
Trigeminal Trophic Syndrome
Tapia Syndrome trigeminal neurotrophic ulceration or trigeminal neuropathy
Unilateral paralysis of the larynx and tongue (w/ atrophy of the with nasal ulceration
tongue) presentation:
soft palate and cricothyroid muscle-- intact ulceration of the face(part. ala nasi)
th th
lesion at the point where the 12 & 10 nerves, together with chronic, nonspecific ulceration and crusting
the internal carotid artery, cross one another. erythema
Trauma is the most common cause tendency to bleed easily
Pressure neuropathy due to inflation of the cuff of an predominant granulation tissue
endotracheal tube within the larynx, rather than within the Treatment should focus on prevention of trauma to lesion and
trachea, is associated with the palsy of the laryngeal nerve. prevention of secondary infection.

Tay-Sachs Disease Trotter Syndrome (Sinus of Morgagni Syndrome)


infantile form of amaurotic familial idiocy with strong familial Neuralgia of the inferior maxillary nerve
tendencies (recessive inheritance) conductive hearing loss 2 to eustachian tube
found among those of Semitic extraction blockage
nerve cells are distorted and filled with a lipid material preauricular edema caused by neoplastic invasion of
Spielmeyer-Vogt disease the sinus of Morgagni
juvenile form ipsilateral akinesia of the soft palate
normal until after 5 to 7 years of age trismus
seen in children of non-Semitic extraction as well
Turpin Syndrome
Tietze Syndrome congenital bronchiectasis
costal chondritis chondropathia tuberosa of unknown etiology megaesophagus
symptoms tracheoesophageal fistula
pain & tenderness vertebral deformities
swelling of one or more of the upper costal carti- rib malformations
nd
lages (usually 2 rib). heterotopic thoracic duct
Symptomatic treatment

Tolosa-Hunt Syndrome
cranial polyneuropathy--recurrent unilateral painful
ophthalmoplegia, UE
Cranial nerves II, III, IV, V1, and VI may be involved.
tendency for spontaneous resolution and for recurrence
occlusion of the superior ophthalmic vein and at least partial
obliteration of the cavernous sinus.
Tx: systemic steroids

Tourette Syndrome
disorder of the CNS, UE
characterized by
appearance of involuntary tic movements, such as
rapid eye blinking, facial twitches, head jerking, or
shoulder shrugging.
Involuntary sounds, such as repeated throat clearing,
nervous coughing, or inappropriate use of words,
responds to medication
higher rate of absorption, or binding at D2 dopamine receptors
on cells in the caudate nucleus
Vail Syndrome WALLENBERG SYNDROME
unilateral, usually nocturnal, vidian neuralgia that Aka syndrome of PICA thrombosis or Lateral
may be associated with sinusitis. Medullary Syndrome
VATER Syndrome (VACTERL Syndrome) Ischemia of the brain stem (lat medullary region)
Vertebral defects Vertigo, nystagmus, nausea, vomiting, Horner
Anal atresia syndrome, dysphagia, dysphonia, hypotonia,
Tracheoesophageal fistula asthenia, ataxia, falling on the side of the lesion, and
Esophageal atresia loss of pain and temperature sense on the ipsilat.face
Renal defects and contralat.side below the neck
radial Limb dysplasia
Vascular anomalies
WEBER SYNDROME
ventricular septal defect
Paralysis of the OCULOMOTOR NERVE (CN 3) on
single umbilical artery
Vertebral anomalies
the side of the lesion and paralysis of the extremities,
hypoplasia of either the vertebral bodies or the face and tongue on the contralateral side.
pedicles2 scoliosis in children Indicates a lesion in the ventral and internal part of
Anal and perineal anomalies the cerebral peduncle
hypospadias
persistent urachus WHISTLING FACE SYNDROME
female pseudohermaphroditism Aka CRANIOCARPOTARSAL DYSPLASIA
imperforate anus AUTOSOMAL DOMINANT
genitourinary fistulas Main physical features:
GI anomalies - Antimongoloid slant of the palpebral fissures,
duodenal atresia - Blepharophimosis,
esophageal atresia - Broad nasal bridge
tracheoesophageal fistula
- Convergent strabismus
Radial anomalies
- Enophthalmos
supernumerary digiti
hypoplastic radial rays
- Equinovarus w/ contracted toes
preaxial lower extremity anomalies - Flat midface
Renal anomalies - H-shaped cutaneous dimpling on the chin
aplasia or hypoplasia of the kidneys - Kyphosis-scoliosis
ectopia or fusion as well as congenital hydronephrosis - Long philtrum
and hydroureter. - Mask-like rigid face
Hold-Oram syndrome is often confused with this syndrome, but - Microglossia
VATER syndrome is random whereas Hold-Oram is inherited - Microstomia
(formed prior to the fifth week of fetal life during - Protruding lips
organogenesis) - Small nose and nostrils
- Steeply inclined anterior cranial fossa on xray
Villaret Syndrome - Thick skin over flexor surfaces of the proximal
same as the jugular foramen syndrome except that Horner phalanges
syndrome is present here - Ulnar deviation
more extensive involvement in the region of the
- Flexion contractures of the fingers
jugular foramen, the retroparotid area, and the
lateral pharyngeal space.
WILDERVACK (CERVICO-OCULO-ACOUSTIC) SYNDROME
Vogt-Koyanagi-Harada Syndrome Mixed hearing loss
spastic diplegia with athetosis Klippel-Feilanomalad (fused cervical vertebrae)
pseudobulbar paralysis (lesion of the caudate nucleus Bilateral abducens palsy with retracted bulb (Duane
and putamen) syndrome)
bilateral uveitis F>M, 75:1
vitiligo Sex linked dominance w/ lethality in the homozygous
deafness male subject
alopecia
increased CSF pressure WILSON DISEASE (HEPATICOLENTICULAR
retinal detachment DEGENERATION)
2 Types:
Von Hippel-Lindau Disease Rapidly progressive- occurs during childhood
cerebellar, medullary, and spinal hemangioblastoma Slowly progressive occurring in the 3rd or 4th decades
retinal angiomata Familial
pheochromocytoma Cirrhosis w/ progressive damage to CNS
renal cell carcinoma Kayser- Fleischer ring- brown pigmentation, outer
sometimes fatal disease is predisposed to papillary margin of the cornea
adenoma of the temporal bone. Can present w/ hearing loss
WINKLER DISEASE
CHONDRODERMATITIS NODULARIS
CHRONICA HELICIS)
AV anastomosis and nerve ending accumulation at
the helical portion of the ear
Pain; hard round nodules involving the skin and
cartilage of the helix
90% occur in Men
Tx: Excision of nodules and Steroids

XERODERMA PIGMENTOSUM
AR
Photosensitive skin D/O w/ multiple basal cell
epitheliomas
Can result to : SCC or MM
Occurs mainly in Children
Keep away from the sun