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