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Tel Hashomer camptodactyly syndrome

Synonym(s) -
Prevalence <1 / 1 000 000
Inheritance Unknown
Age of onset Infancy
  • Q74.0
  • C1859356
  • C536953
MedDRA -


Disease definition

Tel Hashomer camptodactyly syndrome is a rare syndrome characterized by camptodactyly, muscle hypoplasia and weakness, skeletal anomalies, facial dysmorphism and abnormal dermatoglyphics.


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.


The molecular basis of the syndrome has not yet been elucidated.

Genetic counseling

Inheritance is probably autosomal recessive.

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