Bilateral microtia

Gene: ORC4

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
#613800:Meier-Gorlin syndrome 2 [Short stature; Birth length less than 3rd percentile; Birth weight less than 3rd percentile; Failure to thrive; Intrauterine growth retardation (IUGR); Microcephaly; Dolichocephaly; Flat philtrum; Micrognathia; Mandibular hypoplasia; Microtia, bilateral; Simple ears; Small external auditory meatus; Hypoplastic nasal alae (slight); Small mouth; Respiratory problems; Tracheomalacia; Bronchomalacia; Breast hypoplasia; Feeding problems in early infancy; Gastroesophageal reflux; Hypoplastic labia majora, mild; Clitoromegaly; Delayed bone age; Slender long bones; Absent or hypoplastic patellae (in some patients); Hyperextensible joints, especially elbows and knees; Camptodactyly, distal interphalangeal, of second, third, and fourth fingers; Camptodactyly, proximal interphalangeal, of fifth fingers; High-pitched voice]

Publications

• PMID:11477602
• 21358631
• 21358632
• 9353276
• 9691185

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Meier-Gorlin EPS; causes syndromic features

Publications

• 21358631,