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

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.

Also known as: X-linked colobomatous microphthalmia-microcephaly-short stature-psychomotor retardation syndrome, microphthalmia, syndromic type 13, MCOPS13, Maine microphthalmos, colobomatous microphthalmia with microcephaly, short stature, and psychomotor retardation, microphthalmia, syndromic 13

0 clinical trials for this condition and its sub-types, 0 tagged with X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome itself.