/X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome

X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome

Rare Disease

MONDO:0010485

Also Known As

X-linked colobomatous microphthalmia-microcephaly-short stature-psychomotor retardation syndromemicrophthalmia, syndromic type 13MCOPS13Maine microphthalmoscolobomatous microphthalmia with microcephaly, short stature, and psychomotor retardationmicrophthalmia, syndromic 13

Definition

X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome is a rare syndromic microphthalmia disorder characterized by microphthalmia with coloboma (which may involve the iris, cilary body, choroid, retina and/or optic nerve), microcephaly, short stature and intellectual disability. Other eye abnormalities such as pendular nystagmus, esotropia and ptosis may also be present. Additional associated abnormalities include kyphoscoliosis, anteverted pinnae with minimal convolutions, diastema of the incisors and congenital pes varus.