Conditions / Genetic
syndromic microphthalmia 14
info · Genetic
A syndromic microphthalmia characterized by microphthalmia with coloboma or clinical anophthalmia, with or without rhizomelic skeletal dysplasia that has_material_basis_in heterozygous or homozygous mutation in the MAB21L2 gene on chromosome 4q31.3.
Signs and symptoms
- Coloboma
- Ectopia pupillae
- Cataract
- Nystagmus
- Prominent forehead
- Periorbital fullness
- Long eyelashes
- Moderate intellectual disability
- Rhizomelia
- Strabismus
Also known as: MCOPS14; MCSKS; colobomatous microphthalmia-rhizomelic dysplasia syndrome; microphthalmia and/or coloboma with or without rhizomelic skeletal dysplasia; microphthalmia/coloboma and skeletal dysplasia syndrome