Camptodactyly, with muscular hypoplasia, skeletal dysplasia, and abnormal palmar creases: Tel Hashomer camptodactyly syndrome.

Abstract

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. In 1972, we (Goodman, Bat-Miriam Katznelson, and Manor) described two new genetic disorders of connective tissue which presented with camptodactyly. Recently we had the opportunity of seeing for the second time one of these syndromes in two sibs from an Arab family. The purposes of this report will be to give a detailed account of the clinical features in this syndrome and to discuss its mode of inheritance. Family studies A 20-year-old unmarried Bedouin Arab woman with multiple malformations was referred to our diagnostic clinic for evaluation. On questioning the patient about her family, two important facts became known. She stated that she had an older sister with identical features and that her parents were first cousins. The family pedigree is shown in Fig. 1. In addition to the two affected sibs and their mother, it was not possible to examine any of the other family members. The mother stated that her husband was in good health and did not have any physical defects. The mother did not know her true age but estimated that she was in her late forties. All of her children were born at home and she could not give a reliable history regarding all 13

The wrinkly skin syndrome: a report of a case and review of the literature

“…The wrinkly skin syndrome is one of several rare disorders, i.e. the limb/pelvis hypoplasia syndrome (Raas-Rothchild et al 1988), Tel-Hashomer camptodactyly syndrome (Goodman et al 1976), Glanzmann's thrombocytopenia (Reichert et al 1975) and Wilson's disease (Paswell et al 1977) that appear to cluster in the Middle East in both the Arab and non-Ashkenazi Jewish populations. Further studies are certainly needed, but at this point one can speculate as to whether these disorders attest to an ancient shared gene pool or whether there has been hybridization and gene flow.…”

Camptodactyly, myopia, and fibrosis of the medial rectus of the eye in two sibs born to consanguineous parents: Autosomal recessive entity?

“…Among other syndromes that include camptodactyly the Tel Hashomer camptodactyly syndrome [Goodman et al, 1976] is characterized by camptodactyly, muscular hypoplasia, skeletal dysplasia, but no eye defects. Our case did not have any muscular hypoplasia or skeletal dysplasia.…”

Hands

“…Either autosomal dominant or autosomal recessive inheritance with pseudodominance has been suggested. A combination of camptodactyly, muscular hypoplasia, skeletal dysplasia, and abnormal palmar creases (Tel-Hashomer, OMIM 211960) has been described in sibs of different families (Goodman et al 1976;Tylki-Szymanska 1986). The association referred to as Prader-Willi habitus, osteopenia, and camptodactyly (Urban-Rogers-Meyer syndrome, OMIM 264010) features genital anomalies, mental retardation, obesity, camptodactyly of fingers and toes, and osteoporosis (Urban et al 1979).…”