Search for a rare disease
Other search option(s)
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.
ORPHA:3292Classification level: Disorder
Up to 2005, 20 cases had been reported.
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.
The molecular basis of the syndrome has not yet been elucidated.
Inheritance is probably autosomal recessive.