syndromic microphthalmia 8

info · Genetic

A syndromic microphthalmia characterized by microcephaly, microphthalmia, ectrodactyly of the lower limbs, prognathism and intellectual disability that has_material_basis_in mutation in a region of chromosome 6q21.

Signs and symptoms

Microcephaly
Cleft palate
Microcornea
Blepharophimosis
Short palpebral fissure
Premature skin wrinkling
Split foot
Microphthalmia
Orofacial cleft
Widely-spaced maxillary central incisors

Also known as: MCOPS8; MMEP syndrome; Viljoen-Smart syndrome; microcephaly-microphthalmia-ectrodactyly of lower limbs-prognathism syndrome; syndromic microphthalmia type 8