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Tel Hashomer camptodactyly syndrome

Orpha number ORPHA3292
Synonym(s) -
Prevalence <1 / 1 000 000
Inheritance Unknown
Age of onset Infancy
Neonatal
ICD-10
  • Q74.0
ICD-O -
OMIM
UMLS
  • C1859356
MeSH
  • C536953
MedDRA -
SNOMED CT -

Summary

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.

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.


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