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.