Megarbane Syndrome

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WHO-ICD-10 version:2010

Congenital malformations, deformations and chromosomal abnormalities

Other congenital malformations

OMIM Number

606527

Mode of Inheritance

Autosomal recessive

Description

Megarbane syndrome is a very rare genetic disorder characterized by psychomotor and mental retardation, short stature, microbrachycephaly, flat occiput, ptosis, low- set and prominent ears, beaked nose, joint hyperlaxity and dislocation, hernias, delayed bone age, and abnormality on skin biopsy.

Epidemiology in the Arab World

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Other Reports

Iraq

Megarbane et al. (2001) reported two Iraqi brothers presenting with severe mental retardation, and a unique pattern of multiple congenital abnormalities.

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