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Spondyloepimetaphyseal dysplasia congenita, Strudwick type

Disease definition

Spondyloepimetaphyseal dysplasia congenita, Strudwick type is characterized by disproportionate short stature from birth (with a very short trunk and shortened limbs) and skeletal abnormalities (lordosis, scoliosis, flattened vertebrae, pectus carinatum, coxa vara, clubfoot, and abnormal epiphyses or metaphyses).

ORPHA:93346

Classification level: Disorder
  • Synonym(s): -
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal dominant 
  • Age of onset: -
  • ICD-10: Q77.7
  • OMIM: 184250
  • UMLS: C0700635
  • MeSH: -
  • GARD: 134
  • MedDRA: -

Summary

Epidemiology

The syndrome has been described in less than 30 patients so far.

Clinical description

Cleft palate and eye abnormalities (severe myopia and retinal detachment) are frequently associated. Arthritis may develop early in life.

Etiology

This condition is caused by mutations in the COL2A1 gene (12q13.11-q13.2).

Genetic counseling

It is inherited in an autosomal dominant manner.

- Last update: September 2009

Detailed information

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Additional information

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.