Malpuech Facial Clefting Syndrome

Malpuech facial clefting syndrome, also called Malpuech syndrome, is a rare congenital syndrome characterized by facial clefting, a caudal appendage, growth deficiency, intellectual and developmental disability, and abnormalities of the kidneys and male genitalia; abnormalities of the heart and other skeletal malformations may also be present. It was first described by Georges Malpuech and colleagues in 1983, is thought to be genetically related to Juberg-Hayward syndrome, and follows an autosomal recessive pattern of inheritance in which the syndrome occurs only when two copies of a defective gene are inherited.