Lujan-Fryns Syndrome

Alternative Names

  • Mental Retardation, X-Linked, with Marfanoid Habitus
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WHO-ICD-10 version:2010

Congenital malformations, deformations and chromosomal abnormalities

Other congenital malformations

OMIM Number

309520

Mode of Inheritance

X-linked recessive

Gene Map Locus

Xq13.1

Description

X-linked mental retardation with marfanoid habitus syndrome is a congenital disorder that is characterized by mental retardation in association with marfanoid features, distinct craniofacial appearance and behavioural problems. Marfanoid features describe the tall and stooped posture with long, hyper-extensible fingers and toes.  The syndrome affects males more than females and it may occur more frequently among mentally retarded patients and psychiatric patients.  

Recent studies have shown that Lujan-Fryns syndrome is caused by mutation in the MED12 gene.

Epidemiology in the Arab World

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Other Reports

Lebanon

Megarbane and Chammas (1997) reported a Lebanese young adult male with a marfanoid habitus, a severe mental retardation, and a peculiar face, born to healthy non consanguineous parents. His younger sibling presented with the same dysmorphic features and died at two months from incorrigible heart disease.  

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