Hearing lossGene: FGFR1
There are several cases in OMIM reported with Hypogonadotropic hypogonadism 2 with or without anosmia that also have hearing impairment. In Gene2Phenotype, Kallman syndrome Type 2 has Sensorineural hearing impairment as a HPO term. This gene is Green on the Idiopathic hypogonadotropic hypogonadism gene panel Version 1.14, should it also be green on the Congenital hearing impairment panel?
Created: 29 Mar 2018, 3:11 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
#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 toesCutaneous syndactyly of second and third toesShort, broad metatarsalTarsonavicular and calcaneonavicular fusion; Caused by mutation in the fibroblast growth factor receptor-2 gene (FGFR2,)Caused by mutation in the fibroblast growth factor receptor-1 gene (FGFR1,)]; #147950:Hypogonadotropic hypogonadism 2 with or without anosmia[Hearing loss, unilateral (rare); Iris coloboma (rare); Hyposmia/anosmia (in some patients)Absence of nasal cartilage, unilateral (rare); Cleft lipCleft palate; Tooth agenesis, variable in number (in some patients); Delayed or absent thelarcheGynecomastia (in untreated males); MicropenisCryptorchidism; Primary amenorrhea; Osteopenia (in some patients); Clinodactyly (rare)Fusion of fourth and fifth metacarpal bones (rare)Ectrodactyly (rare); Ectrodactyly (rare); Mirror hand movements (bimanual synkinesis, in some patients)Corpus callosum agenesis (rare); Hypogonadotropic hypogonadismDelayed or absent pubertyLow to undetectable gonadotropin levelsLow testosterone levelLow estradiol level]; #166250:Osteoglophonic dysplasia[Rhizomelic dwarfism; Failure to thrive; Frontal bossingPrognathismMidface hypoplasiaLong philtrum; Low-set ears; HypertelorismProptosisDownslanting palpebral fissures; Anteverted naresShort noseDepressed nasal bridge; High-arched palate; Unerupted teeth; Short neck; Respiratory distress; Nasal obstruction; Small scapulaeProgressive rib expansion; HypospadiasInguinal herniaChordee; Cryptorchidism; CraniosynostosisKleeblattschaedel deformityShallow orbits; Platyspondyly; Short, bowed limbsIrregular areas of radiolucency in metaphysesFracturesPseudoarthroses; Short, broad handsShort, broad metacarpalsShort, broad phalanges; Short, broad feetShort, broad metatarsals; Pretibial dimples; Hypoplastic toenails; Speech delay]; #190440:Trigonocephaly 1[TrigonocephalyMicrocephaly; Preauricular skin tags; HypotelorismSynophrys, mildS-curved lower eyelids; Omphalocele; Meckel diverticulum; Large penis; Craniosynostosis (metopic suture); Lumbar hemivertebrae; Synophrys, mild; Normal intelligence; Caused by mutation in the fibroblast growth factor receptor 1 gene (FGFR1,)]; #615465:Hartsfield syndrome[Microcephaly; Low-set earsPosteriorly rotated ears; Epicanthal foldsHypertelorismHypotelorism; Broad nose; Cleft lipCleft palate; Small penisHypospadias; Cryptorchidism; Hypoplastic frontal bonesCraniosynostosis (reported in 1 patient); EctrodactylySyndactyly; EctrodactylySyndactyly; Lobar holoprosencephalyHypotonia, neonatalPsychomotor retardation, severeVermian hypoplasiaAgenesis of the corpus callosum; Gonadotropin deficiencyDiabetes insipidus; Hypernatremia; Caused by mutation in the fibroblast growth factor receptor 1 gene (FGFR1,)]
FGFR1 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Expert