Tel Hashomer camptodactyly syndrome is a very rare syndrome characterized by camptodactyly, muscle hypoplasia and weakness, skeletal anomalies, and facial dysmorphism. Abnormal dermatoglyphics include: facial asymmetry, hypertelorism, broad nasal bridge, long philtrum, and a small mouth. Until 2005, only 20 cases have been reported worldwide.
The pattern of inheritance suggested for Tel Hashomer camptodactyly syndrome is autosomal recessive; its molecular basis is unknown.
In a consanguineous Libyan family, Tylki-Szymanska (1986) described three cases of Tel Hashomer camptodactyly syndrome in two sibships related as double first cousins.
Goodman et al. (1972) described a brother and sister, born to a Jewish family, 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 were not known to be related.
Goodman et al. (1976) described two sisters, born to first-cousin Bedouin parents, with Tel Hashomer Camptodactyly Syndrome. They both had bilateral absence of the peronei muscles and extensor hallucis longus muscle of the lower extremities. They also had multiple skeletal abnormalities including: short metatarsals with shafts of metatarsals and phalanges, overlapping of distal joints, and a deformed calcaneous with a vertical talus and deformed navicular. Facial and body resemblance with a prominent forehead presented in the 19 old year sister. She had facial asymmetry, ocular hypertelorism, small mouth, poor muscular development, poor lower leg muscle development, and hypoplasia of the thenar and hypothenar eminences of the hands. Goodman et al. (1976) 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. The parents and the other siblings were not affected, thus, suggesting that the disease is transmitted as an autosomal recessive pattern.