Bilateral microtia

Gene: ORC1

Green List (high evidence)

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

• PMID:11477602
• 11931757
• 14564153
• 17761879
• 17761880
• 19197067
• 21358631
• 21358632
• 21358633
• 22398447
• 7502077
• 819054
• 8884289
• 8943353

Green List (high evidence)

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