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Parastremmatic dwarfism

Disease definition

A very rare chondrodysplasia characterized by severe dwarfism, kyphoscoliosis, stiffness of large joints and distortion of lower limbs.

ORPHA:2646

Classification level: Disorder
  • Synonym(s): -
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal dominant 
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q87.1
  • OMIM: 168400
  • UMLS: C1868616
  • MeSH: C537172
  • GARD: 4222
  • MedDRA: -

Summary

Epidemiology

Only 5 cases have been described to date.

Clinical description

Radiographs show bowing of long bones, platyspondyly and a very rough, irregular metaphyseal and epiphyseal bone texture.

Etiology

The syndrome is caused by a heterozygous mutation in the TRPV4 gene (12q24.1).

- Last update: September 2011

Detailed information

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Further information on this disease

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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.