Hearing lossGene: FGFR2
Obvious syndromic features
Created: 19 Feb 2016, 7:17 p.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
#101200:Apert syndrome[Deceleration of linear growth during childhood; Normal birth weightNormal birth length; AcrobrachycephalyTurribrachycephalyLarge fontanelLate-closing fontanelMegalencephaly; High, broad foreheadFlat faceMidface hypoplasiaMandibular prognathism; Hearing lossChronic otitis mediaAbnormal semicircular canals; Shallow orbitsHypertelorismDownslanting palpebral fissuresProptosis; Depressed nasal bridgeChoanal stenosis or atresiaStrabismus; Narrow palateCleft palateBifid uvula; MalocclusionDelayed dental eruption; Ventricular septal defect; Overriding aorta; Anomalous tracheal cartilage; Pyloric stenosisEsophageal atresiaEctopic anus; Cryptorchidism; Vaginal atresia; Hydronephrosis; Craniosynostosis (coronal)Jugular foraminal stenosis; Cervical vertebrae fusion, usually at C5 to C6; Synostosis of radius and humerusFusion of carpal bones, especially capitate and hamate; Symmetric osseous and/or cutaneous syndactyly of handsBroad distal phalanx of thumbPolydactyly, preaxial (rare)Polydactyly, postaxial (rare); Symmetric osseous and/or cutaneous syndactyly of feetBroad distal halluxPolydactyly, preaxial (rare)Polydactyly, postaxial (rare); Moderate to severe acne; Single nail common to digits 2 to 4; Variable mental retardationAgenesis of the corpus callosumVentriculomegalyAbsent septum pellucidumLimbic malformationsChiari I malformationLow-lying cerebellar tonsilsPosterior fossa arachnoid cystHydrocephalus]; #101400:Saethre-Chotzen syndrome[Short stature; BrachycephalyAcrocephaly; Flat faceHigh, flat foreheadLow frontal hairlineMaxillary hypoplasiaFacial asymmetry; Long and prominent ear crusSmall earsLow-set earsApical cartilage deformityDeafness; Shallow orbitsHypertelorismPlagiocephaly (asymmetry of orbits)StrabismusBuphthalmosPtosisS-shaped blepharoptosisLacrimal duct abnormalities; Thin, long, pointed noseBeaked nose; Narrow palateCleft palate; Congenital heart defect; Intracranial hypertension due to multisutural cranial fusion; Late closing fontanellesCraniosynostosis of coronal, lambdoid, and/or metopic suturesAcrocephalyParietal foramina; Small iliaLarge ischia; Radioulnar synostosis; Mild syndactyly (often 2nd-3rd fingers)Bifid terminal phalanges digits 2 and 3Absent first metatarsalBrachydactylyFifth finger clinodactyly; Syndactyly (often 3rd-4th toes)Hallux valgus; Increased risk of breast cancer in women]; #101600:Pfeiffer syndrome[TurribrachycephalyClover-leaf skull (in some patients); Maxillary hypoplasiaMandibular prognathism; Shallow orbitsHypertelorismDownslanting palpebral fissuresProptosisStrabismus; Small noseLow nasal bridgeChoanal atresia or stenosis; High-arched palate; Dental crowding; Cartilaginous tracheaLaryngo-, tracheo-, bronchomalacia; Craniosynostosis (coronal with or without sagittal suture); Radiohumeral synostosis of elbow; Broad thumbPartial syndactyly of fingers and toesBrachymesophalangy of hands and feet; Broad great toe; Occasional mental retardationHydrocephalusArnold-Chiari malformation]; #123150:Jackson-Weiss syndrome[Midface hypoplasia; Craniosynostosis; Medially deviated, broad great toes; Cutaneous syndactyly of second and third toesShort, broad metatarsalTarsonavicular and calcaneonavicular fusion
FGFR2 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Expert