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Spondyloepiphyseal dysplasia tarda, Kohn type

ORPHA163665
Synonym(s) -
Prevalence <1 / 1 000 000
Inheritance Autosomal recessive
Age of onset Childhood
ICD-10
  • Q77.7
OMIM
UMLS -
MeSH -
MedDRA -

Summary

Spondyloepiphyseal dysplasia tarda, Kohn type is characterized by short trunk dwarfism, progressive involvement of the spine and epiphyses and mild-to-moderate intellectual deficit.

The syndrome has been described in three daughters born to healthy consanguineous parents.

The skeletal disorder usually manifests in late childhood. Typical radiographical features include platyspondyly, abnormal lumbar vertebrae and degenerative large joint changes.

Autosomal recessive transmission has been suggested.


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