Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases
Clinical Features
Goodman et al. (1972) described a brother and sister who had camptodactyly with muscular hypoplasia, skeletal dysplasia, and abnormal palmar creases. The sister had clubfeet. The brother had an inguinal hernia. Interphalangeal finger creases were completely absent in both. The parents, Moroccan Jews, were not known to be related. Goodman et al. (1976) observed a second family with 2 affected sisters. The parents, of Arab Bedouin origin, were first cousins. The authors suggested the designation 'Tel Hashomer camptodactyly syndrome.' Hypertelorism, long philtrum, underdevelopment of the thenar and hypothenar eminences, and spina bifida at C1 were present in both. They suggested that the dermatoglyphic changes are pathognomonic whorls, on seven or more digits, that extend beyond the borders of the terminal phalanges; a low main line index resulting from a vertical orientation of the A-D radiants and numerous palmar creases obliterating the normal structure of the ridges and openings of the sweat pores.
Gollop and Colletto (1984) suggested that fifth finger camptodactyly may be a heterozygous manifestation.
In a 4-year-old girl with this disorder, Patton et al. (1986) found raised creatine kinase and abnormal electromyogram and muscle biopsy. They proposed that this condition may be primarily a myopathy.
Pagnan et al. (1988) reported a patient and reviewed the literature. They suggested that heterozygotes may show camptodactyly and dermatoglyphic abnormalities.
Toriello et al. (1990) described affected Hispanic brother and sister who also had mitral valve prolapse. They pointed out that although mitral valve prolapse occurs with many disorders and as an isolated finding, its presence in these sibs suggests that abnormal connective tissue is a pleiotropic effect of the mutant allele.
Melegh et al. (2005) diagnosed Tel Hashomer camptodactyly in a 4-month-old Hungarian boy whom they followed for 12 years. In addition to the characteristic clinical findings, he had preductal coarctation of the aorta, persistent ductus arteriosus, and multiple ventricular septal defects. A muscle biopsy revealed anomalies of the sarcoplasmic reticulum and mitochondria; the organization of the myofibrils was normal. At age 12, he was severely retarded and could speak only a few words, and he had impaired motor development such that he could stand and walk a few shuffling steps.
Wijerathne et al. (2016) summarized the dermatoglyphic findings in 23 previously reported cases of Tel Hashomer camptodactyly syndrome.
InheritanceConsanguinity in families with Tel Hashomer camptodactyly supports autosomal recessive inheritance. Verellen-Dumoulin et al. (1981) studied a patient who was the daughter of consanguineous parents. In a consanguineous Libyan Arabic family, Tylki-Szymanska (1986) described 3 cases in 2 sibships related as double first cousins.