Tel Hashomer Camptodactyly Syndrome
Tel Hashomer camptodactyly syndrome is a rare syndrome characterized by camptodactyly, muscle hypoplasia and weakness, skeletal anomalies, facial dysmorphism and abnormal dermatoglyphics.
Epidemiology
Up to 2005, 20 cases had been reported.
Clinical description
Dysmorphic features include facial asymmetry, hypertelorism, broad nasal bridge, long philtrum and a small mouth. Winging scapulae, scoliosis, syndactyly and clinodactyly are commonly observed. The affected patients usually have normal mental development.
Etiology
The molecular basis of the syndrome has not yet been elucidated.
Genetic counseling
Inheritance is probably autosomal recessive.