Syndromes & Eponyms Flashcards
Polyostotic fibrous dysplasia, cafe au lait spots, precocious puberty
McCune-Albright syndrome
Gustatory sweating
Frey syndrome
Unilateral paralysis of the larynx and velum with contralateral loss of pain & temperature below the larynx
Avellis syndrome
Multiple nevoid basal cell epitheliomas of the skin, cysts of the jaw, frontal bossing, dorsal scoliosis; associated with medulloblastoma
Basal cell nevoid syndrome
Macroglossia, omphalocele, hypoglycemia, pancreatic hyperplasia, noncystic renal hyperplasia, cytomegaly of the fetal adrenal cortex
Beckwith syndrome
Indolent ulcers of the mucous membrane & skin, stomatitis, anogenital ulcers, iritis, conjunctivitis
Behçet syndrome
Conductive hearing loss, cup-shaped pinna with bilateral preauricular sinuses, bilateral branchial cleft fistulas, renal dysplasia
Brachio-oto-renal syndrome
Vertigo, headache, vomiting, visual disturbances due to an obstruction of CSF flow during positional changes of the head
Brun syndrome
Dwarfism, prominent forehead, flat facies, cleft palate, mandibular hypoplasia, tracheobronchial malacia, shorted & flattened cochlea, bowing of the tibia & femur with malformation of other bones
Captomelic syndrome
Orbital pain with venous congestion of the retina, lids, & conjunctiva, eye proptosis with exophthalmos, photophobia, involvement of CN II, III, IV, V
Cavernous sinus syndrome
Chronic degeneration of the peripheral nerves & roots, distal muscle atrophy in feet, legs, & hands, loss of deep tendon reflexes, cerebellar ataxia features, optic atrophy
Charco-Marie-Tooth disease
Albinism, photophobia, nystagmus, hepatosplenomegaly, lymphoma
Chédiak-Higashi Syndrome
Nonsyphilitic interstitial keratitis with rapid visual loss, episodic severe vertigo accompanied by tinnitus, spontaneous nystagmus, ataxia, progressive SNHL
Cogan syndrome
Adenoid facies, hypoplasia of the mandible and maxilla, high-arched palate, hypoplasia of the soft palate & uvula, microstomia, papillomatosis of the lips & pharynx, pectus excavatum, CNS abnormalities
Cowden syndrome
Abnormal right subclavian artery with compression of the esophagus
Dysphagia lusoria
Facial hemihypertrophy involving the eyelids, cheeks, lips, facial bones, tongue, ear, & tonsils
Friedreich disease
Autosomal dominant disease of fibroma, osteoma of the skull, mandible, maxilla, & long bones with epidermoid inclusion cysts and colon polyps
Gardner syndrome
Suppurative otitis, retro-orbital pain, abducens paralysis with diplopia
Gradenigo syndrome
Spontaneous torticollis, flexed & rotated head with limited range of motion, flat face, displacement of the spine of the axis to the same side as the head is turned
Grisel syndrome
Cerebellar tumor, intention tremor beginning in one extremity and then involving the rest of the body, facial paralysis, otalgia, aural herpes, juvenile paralyis agitans
Hunt syndrome
Prominent supraorbital ridges, large flattneed nose, low-set ears, progressive corneal opacities, patulous lips & prognathism, short neck, abdominal protuberance, hirsutism, short status, TMJ arthritis, mental retardation
Hunter syndrome
Situs inversus, chronic sinusitis, bronchiectasis
Kartagener syndrome
Deafness & tinnitus followed by a vertiginous attack that relieves the tinnitus and improves the hearing
Lermoyez syndrome (variant of Ménière’s disease
Multiple cutaneous hemangiomas with dyschondroplasia and enchondroma, may cause sharp bowing of the extremities
Maffucci syndrome
Acrofacial dysotosis, preaxial upper limb defects, microtia, aural atresia, ossicular malformation
Nager syndrome
Multiple hyperplastic frenula, cleft tongue, dystopia canthorum, hypoplasia of the nasal alar cartilage, median cleft of the upper lip, digital malformation, hamartoma between the lobes of the divided tongue
Oral-Facial-Digital Syndrome I
Punctate hemangiomas in the mucous membranes of the lips, tongue, mouth, GI tract, etc.
Osler-Weber-Rendu Disease (HHT)
Skeletal dysplasia, CHL, cleft palate, mild dwarfism, mental retardation, broad nasal root, hypertelorism, small mandible, winged scapulae, malar flattening, downward obliquity of the eye
Otopalatodigital syndrome
Pigmentation of the lips and oral mucosa, benign polyps of the GI tract
Peutz-Jeghers syndrome
Glossoptosis, micrognathia, U-shaped cleft palate
Pierre Robin sequence
Dysphagia due to degeneration of the esophageal muscle, tongue papillae atrophy, microcystic hypo chromic anemia, achlorhydria, glossitis, pharyngitis, esophagitis, chelitis
Plummer-Vinson syndrome
Neuralgia of the glossopharyngeal nerve, usually precipitated by movement of the tongue or throat
Reichert syndrome
Aspirin allergy, nasal polyposis, asthma
Samter triad
Postural hypotension, impotence, sphincter dysfunction, anhidrosis with progression to panautonomic failure, atypical parkinsonism, cerebellar dysfunction, laryngeal stridor, intermittent diplophonia, slow speech rate
Shy-Drager syndrome
Neuralgia of the lower half of the face, nasal congestion, rhinorrhea associated with lesions of the sphenopalatine ganglion
Sluder neuralgia
Intermittent vertigo, occipital headache, blurred vision, diplopia, dysarthria, pain in the upper extremity
Subclavian steal syndrome
Paralysis of the upper eyelid, orbital pain, photophobia, paralyis of III, IV, V1, VI
Superior Orbital Fissure Syndrome
Unilateral paralysis of the larynx and tongue coupled with tongue atrophy; soft palate and cricothyroid muscles are intact
Tapia syndrome
Vertebral defects, anal atresia, cardiac defects, tracheoesophageal fistula with esophageal atresia, renal defect, limb dysplasia
VACTERL
Mixed hearing loss, fused cervical vertebrae, bilateral abducens palsy
Cervico-Oculo-Acoustic syndrome (Wildervanck syndrome)
