Marden-Walker Syndrome

Alternative Names

  • MWKS
  • MWS
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WHO-ICD-10 version:2010

Congenital malformations, deformations and chromosomal abnormalities

Other congenital malformations

OMIM Number

248700

Mode of Inheritance

Autosomal recessive

Gene Map Locus

18p11.22-p11.21

Description

Marden-Walker Syndrome is a rare connective tissue disorder characterized by postnatal growth retardation, mutilple joint contractures and a distinct facies. The facial features include blepharophimosis, microphthalmia, low-set ears, micrognathia, high arched apalte, amd malformed pinnae among others. 

Mutations in the PIEZO2 gene are now known to result in this condition. 

Epidemiology in the Arab World

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Other Reports

Lebanon

Jaatoul et al (1982) described a consanguineous family in which four siblings were suspected to have Marden-Walker Syndrome. The male propositus presented as a 10-month old with failure to thrive, psychomotor retardation and multiple congenital anomalies. He had three older siblings who had all died as neonates and had similar congenital anomalies. The parents were healthy. 

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