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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

Disease definition

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

Epidemiology

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

Clinical description

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

Genetic counseling

Autosomal recessive transmission has been suggested.

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