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Spondylometaphyseal dysplasia, Kozlowski type

Disease definition

Spondylometaphyseal dysplasia, Kozlowski type is characterized by short stature (short-trunk dwarfism), scoliosis, metaphyseal abnormalities in the femur (prominent in the femoral neck and trochanteric area), coxa vara and generalized platyspondyly.

ORPHA:93314

Classification level: Disorder
  • Synonym(s): -
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal dominant 
  • Age of onset: Infancy
  • ICD-10: Q77.8
  • OMIM: 184252
  • UMLS: C0265280
  • MeSH: C535797
  • GARD: 3047
  • MedDRA: -

Summary

Epidemiology

Prevalence is estimated at less than one in one million people.

Clinical description

Intelligence is usually normal.

Etiology

The syndrome is caused by a mutation in the TRPV4 gene (12q24.1) and is transmitted in an autosomal dominant manner.

Expert reviewer(s):  Dr Martine LE MERRER - Last update: September 2009

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The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.