Camptodactyly, with muscular hypoplasia, skeletal dysplasia, and abnormal palmar creases: Tel Hashomer camptodactyly syndrome.
A syndrome characterized by camptodactyly, distinct facial features, multiple musculoskeletal defects, and unique dermatoglyphic changes is described in two sisters born of consanguineous parents. In 1972 this same constellation of findings was first reported in two sibs from a different ethnic origin. This heritable disorder of connective tissue termed the Tel Hashomer camptodactyly syndrome is thought to be transmitted as an autosomal recessive trait. The basic defect is unknown.
D000328:Adult; D001848:Bone Diseases, Developmental / Q000150:complications* / Q000235:genetics; D003878:Dermatoglyphics; D005145:Face; D005260:Female; D005385:Fingers / Q000002:abnormalities*; D006225:Hand; D006801:Humans; D007557:Israel; D009132:Muscles / Q000002:abnormalities*; D010375:Pedigree; D012529:Saudi Arabia / Q000208:ethnology; D013577:Syndrome