Mental Retardation with Optic Atrophy, Facial Dysmorphism, Microcephaly, and Short Stature

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WHO-ICD-10 version:2010

Congenital malformations, deformations and chromosomal abnormalities

Other congenital malformations

OMIM Number

609037

Mode of Inheritance

Autosomal recessive

Description

This is an extremely rare condition, characerized by severe mental retardation, microcephaly with elongated faces, seizure disorders, short stature, hypertelorism, optic atrophy, ptosis, absent ear lobes, and thin upper lips. 

Epidemiology in the Arab World

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Other Reports

Lebanon

Mégarbané (2003) described two male cousins, both born to consangunieous parents, who presented with mental reatardation and facial dysmorphism. Both patients were described as having severe mental retardation, short stature, optic atrophy, abnormal EEG, and similar facial anomalies including microcephaly, hypertelorism, thin upper lip, ptosis, and absent ear lobes. The authors described this as novel MCA/MR syndrome. 

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