A syndrome characterized by contractures and pterygia of upper body associated with umbilical hernia, short stature, and distinctive face in an Arabic family

A large Moslem Arabic family from the North of Israel is presented in which nine individuals are affected with short stature (5th centile and below), variable pterygium of neck or short neck with limited range of motion, pterygium of elbows, short palms, and brachydactyly. Other abnormalities of the fingers include syndactyly, camptodactyly, and/or hypermobility of the small joints. The face typically appeared long and myopathic. Ptosis was present with downslanting palpebral fissures, facial movements were reduced and the midface was flat. Umbilical hernia was present together with hypoplasia of the skin in the periumbilical area. The lower body region was unaffected in this family. The family is characterized by multiple consanguineous marriages, and the pedigree is consistent with autosomal recessive inheritance. The phenotype seems to be distinct from other multiple pterygium syndromes because the lower limbs are spared, and the umbilical hernia with hypoplastic skin has not been described previously.