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

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

Synonyms: X-linked colobomatous microphthalmia-microcephaly-short stature-psychomotor retardation 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.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version March 2024

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