Bilateral microtia
Gene: ORC1
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
#224690:Meier-Gorlin syndrome 1 [Short stature; Birth length less than 3rd percentile; Birth weight less than 3rd percentile; Failure to thrive; Intrauterine growth retardation; Microcephaly; Small anterior fontanelle; Micrognathia; Maxillary hypoplasia; Mandibular hypoplasia; Frontal bossing; Bilateral microtia; Hearing loss; Mondini malformation; Low-set ears; Atretic auditory canal; Strabismus; Long eyelashes; Short palpebral fissures; Small mouth; Full lips; Cleft palate; High-arched palate; Small teeth; Respiratory distress (neonate); Emphysema, congenital (in some patients); Chest asymmetry; Pectus carinatum; Lack of sternal ossification; Slender ribs; Flat or absent glenoid fossae; Hooked clavicles; Short ribs; Breast hypoplasia; Feeding problems; Gastroesophageal reflux; Shawl scrotum; Micropenis; Clitoromegaly; Hypoplastic labia minora; Hypoplastic labia majora; Cryptorchidism; Delayed bone age; Joint laxity; Joint contractures; Hemivertebrae; Blount osteochondritis dissecans; Aseptic femoral necrosis; Coxa valga/vara; Aplastic or hypoplastic patellae; Elbow dislocation; Epiphyseal flattening; Slender long bones; Genu valgum or genu varum; Fifth finger clinodactyly; Small hands; Camptodactyly; Cutaneous syndactyly (2nd-3rd, 4th-5th); Talipes equinovarus; Thin skin; Prominent vasculature (nose and forehead); Hyperconvex nails; Long eyelashes; Mental retardation; Breech presentation]
Publications
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Meier Gorlin EPS; causes microtia and syndromic features
Variants in this GENE are reported as part of current diagnostic practice
This gene has been classified as Green List (High Evidence).
Publications for ORC1 were set to 21358632
Phenotypes for ORC1 were set to Bilateral Microtia; 224690
Mode of inheritance for ORC1 was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
ORC1 was added to Bilateral Microtiapanel. Sources: Expert list