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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

Detailed information

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Additional information

Further information on this disease

Patient-centred resources for this disease

Research activities on this disease

Specialised Social Services

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.