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Spondylocamptodactyly syndrome

ORPHA3180
Synonym(s) -
Prevalence -
Inheritance -
Age of onset -
ICD-10
  • Q77.8
OMIM
UMLS
  • C1838781
MeSH
  • C535779
MedDRA -

Summary

Spondylo-camptodactyly syndrome is characterized by camptodactyly, flattened cervical vertebral bodies and variable degrees of thoracic scoliosis.

This syndrome has been described in five members from three generations of one family.

Inhertitance is thought to be autosomal dominant or autosomal recessive with pseudodominance.


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