colobomatous microphthalmia-rhizomelic dysplasia syndrome
Colobomatous microphthalmia-rhizomelic dysplasia syndrome is a rare, genetic developmental defect during embryogenesis characterized by a range of developmental eye anomalies (including anophthalmia, microphthalmia, colobomas, microcornea, corectopia, cataract) and symmetric limb rhizomelia with short stature and contractures of large joints. Intellectual disability with autistic features, macrocephaly, dysmorphic features, urogenital anomalies (hypospadia, cryptorchidism), cutaneous syndactyly and precocious puberty may also be present.
MONDO:0016073
syndromic microphthalmia
is_a
MONDO:0018230
skeletal dysplasia
is_a
MCOPS14
related
MCSKS
related
microphthalmia, syndromic 14
related
microphthalmia, syndromic type 14
exact
microphthalmia-coloboma-rhizomelic skeletal dysplasia
exact