Syndrome.docx

Condition/Sign Description Possible Causes Alagille syndrome SNHL due to otic capsule abnormalities Autosomal dominant; JAG1 gene McCune-Albright syndrome CHL with lateral TB involvement, SNHL if IAC involvement GNAS gene; random mutation Alexander’s law Larger, faster eye movements in direction of...

Condition/Sign Description Possible Causes Alagille syndrome SNHL due to otic capsule abnormalities Autosomal dominant; JAG1 gene McCune-Albright syndrome CHL with lateral TB involvement, SNHL if IAC involvement GNAS gene; random mutation Alexander’s law Larger, faster eye movements in direction of fast phase nystagmus (peripheral vestibular lesion) Regulated by VOR Alport syndrome SNHL, progressive renal dysfunction, eye abnormalities COL4A3, COL4A4, COL4A5 genes Alström syndrome SNHL, vision changes, COM, cardiomyopathy, DM2, obesity, renal dysfunction, short stature Autosomal recessive; ALMS1 gene Brun syndrome Headache, vertigo, vomiting, vision loss with head position change (transient CSF obstruction) Usually due to mass lesion in 3rd or 4th ventricle Apert syndrome CHL due to stapes fixation, midface hypoplasia, characteristic facies, cleft lip/palate FGFR2 gene; sporadic or autosomal dominant Albers-Schönberg disease SNHL, nystagmus, pancytopenia (infantile type) Chromosome 11q12–q13 (infantile); Other types have different chromosomal associations Bell’s palsy Idiopathic, acute unilateral facial weakness Likely due to Herpes simplex virus reactivation Bezold abscess Abscess within SCM or infratemporal fossa originating from mastoiditis Erodes through mastoid tip into muscle attachments Biotinidase deficiency SNHL, seizures, hypotonia, blindness, ataxia, alopecia, developmental delay Autosomal recessive; BTD gene Branchio-oto-renal syndrome/Melnick-Frasier syndrome SNHL, CHL, kidney disease Autosomal dominant; EYA1 gene Brown’s sign Blanching of glomus tumor with pneumatic otoscope pressure Not specified in table Brun’s nystagmus Coarse nystagmus with gaze towards lesion, fine nystagmus with gaze opposite lesion (CPA lesions) Seen in 10% of vestibular schwannoma patients Caisson disease Vertigo, SNHL Decompression sickness Carhart notch Closure of air-bone gap at 2000 Hz Otosclerosis CHARGE association CHL, SNHL, mixed hearing loss, inner ear malformations, 8th nerve defects Autosomal dominant; CHD7 gene Churg-Strauss syndrome CSOM Eosinophilic granulomatosis with polyangiitis; autoimmune Cinchonism Headache, tinnitus, SNHL, nausea, photophobia, confusion Quinine poisoning Cogan syndrome SNHL, peripheral vestibular weakness Autoimmune; non-syphilitic interstitial keratitis Collet-Sicard syndrome Multiple cranial neuropathies involving 9, 10, 11, and 12 Jugular foramen and hypoglossal canal compression Congenital cytomegalovirus SNHL (most common cause of congenital nonsyndromic SNHL) CMV infection Costen syndrome TMJ pain, aural fullness Mandibular joint neuralgia Crises of Tumarkin Drop attacks in Meniere disease Otolithic dysfunction due to high endolymphatic pressure Dandy syndrome Oscillopsia due to bilateral vestibular ablation Iatrogenic or idiopathic Condition/Sign Description Possible Causes Notes Eagle syndrome Throat and ear pain Calcified stylohyoid ligament Edwards syndrome Microtia Trisomy 18 Small head, overlapping fingers, severe cardiac anomalies, developmental disability (usually fatal in first year) Familial episodic ataxia Episodic ataxia, vertigo, migraine, tinnitus, blurred vision, other neurological symptoms Autosomal dominant; various genes (KCNA1, SCL1A3, CACNA1A, CACNB4) Types 1-7 exist Familial vestibulopathy Bilateral profound vestibular loss, oscillopsia, normal hearing, migraine headaches Autosomal dominant Frey syndrome Gustatory sweating Damage to autonomic nerves associated with parotid gland Aberrant reinnervation of facial sweat glands Friedreich ataxia SNHL, type I DM, vision loss, scoliosis, cardiac arrhythmias Autosomal recessive; FXN gene Progressive neuromuscular dysfunction Goldenhar syndrome Mixed hearing loss Disorder of 1st and 2nd branchial arches Hemifacial microsomia, microtia, epibulbar tumors Gradenigo syndrome Deep-seated otalgia, 6th nerve palsy, otorrhea Acute petrous apicitis Guillain-Barré syndrome Bilateral facial paralysis Acute autoimmune inflammatory demyelinating polyneuropathy Hennebert sign Vertigo, nystagmus with overpressure in EAC (third window syndromes, tertiary neurosyphilis) Not specified in table Hereditary sensory and autonomic neuropathies (HSAN) Bilateral SNHL, deafness, progressive peripheral neuropathy Autosomal dominant 9q22 Non-healing ulcers, loss of sensation Horner syndrome Miosis, ptosis, anisocoria, anhidrosis on ipsilateral face Injury/damage to sympathetic nervous system Jackson-Weiss syndrome Acrocephalic craniosynostosis, hydrocephalus, midface hypoplasia, toe/foot anomalies, malformed pinnae Autosomal dominant; FGFR2 gene Jervell and Lange-Nielsen syndrome Bilateral profound SNHL, prolonged QT interval Autosomal recessive; KCNE1 and KCNQ1 genes Kearns-Sayre syndrome (KSS) SNHL, ophthalmoplegia, cerebellar ataxia, heart block, pigmentary retinitis Mitochondrial mtDNA deletion, usually sporadic Lacrimoauriculodentodigital (LADD) syndrome Mild microtia, conductive hearing loss, lacrimal and parotid gland aplasia/atresia, digital malformations, dental malformations Autosomal dominant congenital anomaly Lateral medullary syndrome (Wallenberg syndrome) Ipsilateral cranial neuropathies, contralateral spinothalamic deficits (temperature detection), vertigo, nystagmus, cerebellar ataxia Stroke in PICA distribution Lyme disease Facial paralysis similar to Bell’s palsy Infectious disease caused by Borrelia burgdorferi (tick bite) Presentation varies widely Mal de débarquement syndrome Sensation of continued movement while still Poorly understood phenomenon Worse at rest, better with movement Maternally inherited diabetes and deafness (MIDD) Mitochondrial inheritance (m.3243A > G mutation) of type I diabetes mellitus, SNHL MELAS syndrome Progressive SNHL; mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes MT-LT1 gene Melkersson-Rosenthal syndrome Recurrent facial paralysis, tongue swelling, fissured tongue May be associated with Crohn disease or sarcoidosis Meniere disease Unilateral fluctuating SNHL (low-frequency), tinnitus, aural fullness, vertigo attacks (20 min - 12 h) MERRF syndrome SNHL, ataxia; Myoclonic epilepsy with red ragged fibers syndrome Mitochondrial inheritance Michel aplasia Complete congenital absence of cochlea and vestibular system Möbius sequence VI and VII cranial nerve palsies (other cranial nerve deficits possible); micrognathia, cleft palate, COM Insufficient blood supply during development Mohr-Tranebjaerg syndrome Progressive early childhood SNHL, loss of cochlear nuclei, adult-onset optic neuropathy X-linked recessive DDP/TIMM8A gene defect Mondini malformation/incomplete partition Incomplete cochlear development Defect of cochlear development Nager syndrome (acrofacial dysostosis) Similar to Treacher Collins syndrome with radial limb defects Autosomal dominant; SF3B4 gene Neurofibromatosis type 1 Multifocal neurofibromas, malignant nerve sheath tumors, café au lait spots, axillary freckling Autosomal dominant; NF1 gene defect Neurofibromatosis type 2 Multifocal schwannomas (bilateral vestibular schwannomas common), meningiomas, nerve sheath tumors Autosomal dominant; merlin gene defect Oculoauriculovertebral spectrum Hemifacial microsomia spectrum with variable presentations (microtia/atresia) Goldenhar syndrome is most severe phenotype Osteogenesis Imperfecta (van der Hoeve–de Kleyn syndrome) Conductive HL due to ossicular fixation/fracture (stapes), progressing to mixed HL Autosomal dominant; COL1A1 and COL1A2 gene defect Otopalatal-digital syndrome Cleft palate, ossicular abnormalities, pectus excavatum, camptodactyly Paget disease (osteitis deformans) Mixed or SNHL; excessive osteolysis, disorganized bone remodeling (spares otic capsule) Pendred syndrome Euthyroid goiter, enlarged vestibular aqueduct, Mondini malformation (cochlea) Autosomal recessive; SLC26A4 gene defect Ramsay-Hunt Syndrome (herpes zoster oticus) Facial paralysis, vesicles of external ear/canal; varicella zoster reactivation May cause multiple cranial nerve deficits (VII, VIII most common) Refsum disease Progressive SNHL, retinitis pigmentosa, cerebellar degeneration, peripheral neuropathy Autosomal recessive; phytanic acid oxidase deficiency Romberg test Balance and equilibrium test Schwartze sign Hypervascular blush of the promontory (early, active otosclerosis) Seen during otoscopy Stickler syndrome (hereditary arthroophthalmopathy) Progressive SNHL, Pierre-Robin sequence, progressive myopia Autosomal dominant; type II collagen defect (variable phenotype) Superior semicircular canal dehiscence syndrome (Minor’s syndrome) Vertigo (loud sounds/exertion), autophony, conductive hearing loss (bone defect) Susac syndrome Snowball pattern demyelination (corpus callosum), branch retinal artery occlusions, progressive SNHL Rare inflammatory disorder Toby-Ayer-Queckenstedt test Transient elevation of CSF pressure (lateral sinus thrombosis) Townes-Brock syndrome Imperforate anus, dysplastic pinna, digital anomalies, mixed hearing loss, kidney dysfunction Autosomal dominant; SALL1 gene Treacher Collins syndrome Malar hypoplasia, palpebral fissures, microtia, conductive hearing loss Autosomal dominant; TCOF1 gene defect Tullio phenomenon Vertigo induced by loud noises Hypermobile footplate or third window pathology (perilymph fistula, superior semicircular canal dehiscence) Usher syndrome Progressive vision, vestibular, and sensorineural hearing loss Three subtypes, various genetic defects (all autosomal recessive) Retinitis pigmentosa (ophthalmic finding) Vernet syndrome (Jugular foramen syndrome) Cranial nerve deficits IX-XI, sparing XII Lesion in the jugular foramen Vestibular migraine Vertigo episodes, motion intolerance, persistent dizziness/disequilibrium (with or without headache) Considered migrainous Vogt-Koyanagi-Harada syndrome Vertigo, ataxia, SNHL, vision loss (panuveitis, retinal detachment), skin pigment changes (late) Autoimmune disorder targeting melanocytes von Hippel-Lindau syndrome Hemangioblastomas, pheochromocytomas, endolymphatic sac tumors Autosomal dominant; VHL gene defect Waardenburg syndrome Partial albinism (white forelock, heterochromatic irises), congenital SNHL Autosomal dominant (subtypes I, III: PAX3; subtype IV: SOX10) Wegener granulomatosis/granulomatosis with polyangiitis (GPA) Sinonasal crusting, subglottic stenosis, renal failure, hearing loss (SNHL, CHL, mixed), facial paresis Autoimmune condition affecting small/medium arteries Wildervanck syndrome (Cervico-oculo-acoustic syndrome) Klippel Feil anomaly (cervical vertebrae fusion), hearing loss (conductive, SNHL, mixed), ocular movement defects X-linked dominant X-linked gusher syndrome Congenital conductive hearing loss (stapes fixation), bulbous fundus of IAC, widened/absent bony modiolus (CT findings) More common in boys VHL - von-Hippel Lindau