Bilateral microtia

Gene: CHD7

Red List (low evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
#214800:CHARGE syndrome [Postnatal growth retardation; Microcephaly; Square face; Malar flattening; Micrognathia; Facial asymmetry; Small ears; Lop ears; Cup-shaped ears; Deafness (sensorineural or mixed sensorineural and conductive); Mondini defect; Hypoplastic semicircular canals; Colobomas (iris, choroid, retina, disc, and optic nerve); Anophthalmia; Microphthalmia; Ptosis; Hypertelorism; Downslanting palpebral fissures; Posterior choanal atresia (membranous and/or bony); Anosmia; Cleft palate; Cleft lip; Tetralogy of Fallot; Atrial septal defect; Ventricular septal defect; Double-outlet right ventricle; Patent ductus arteriosus; Pulmonary valve stenosis; Rib anomalies; Umbilical hernia; Omphalocele; Tracheoesophageal fistula; Esophageal atresia; Duodenal atresia; Anal atresia; Anal stenosis; Poor feeding; Chewing/swallowing difficulties; Delayed pubertal development; Micropenis; Hypoplastic labia; Cryptorchidism; Horseshoe kidney; Hydronephrosis; Monodactyly (some); Ulnar hypoplasia (some); Tibial aplasia (some); Bifid femur (some); Radial aplasia (reported in 1 patient); Mental retardation, variable severity; Intellectual function may be high in milder cases; Balance disturbances; Facial palsy; Dysphagia; Cranial nerve anomalies; Autistic features; Growth hormone deficiency; Parathyroid hypoplasia; Gonadotropin deficiency; Hypothyroidism; Thymic hypoplasia or aplasia; T cell defect, mild to severe; Lymphopenia; Humoral defect (in some); Hypocalcemia]; #612370:Hypogonadotropic hypogonadism 5 with or without anosmia [; <omim version=1.0>; <clinicalSynopsisList>]

Publications

• PMID:10718198
• 15300250
• 16155193
• 16169932
• 16207732
• 16400610
• 16763960
• 17334995
• 17436250
• 17661815
• 17937444
• 18074359
• 18472328
• 18834967
• 18978652
• 19279158
• 20016488
• 20130577
• 20453063
• 20591827
• 21532573
• 21554267
• 23883829
• 24728844
• 25119037

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
CHARGE syndrome

Variants in this GENE are reported as part of current diagnostic practice