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Spondylometaphyseal dysplasia, Schmidt type

Disease definition

Spondylometaphyseal dysplasia, Schmidt type is characterized by short stature, myopia, ,small pelvis, progressive kypho-scoliosis, wrist deformity, severe genu valgum, short long bones, and severe metaphyseal dysplasia with moderate spinal changes and minimal changes in the hands and feet.

ORPHA:93316

Classification level: Disorder
  • Synonym(s):
    • Spondylometaphyseal dysplasia with severe genu valgum
    • Spondylometaphyseal dysplasia, Algerian type
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal dominant 
  • Age of onset: -
  • ICD-10: Q77.8
  • OMIM: 184253
  • UMLS: C1866688
  • MeSH: -
  • GARD: 504
  • MedDRA: -

Summary

Epidemiology

This condition has been reported in five members of an Algerian family and one Polish boy; the patient reported by Schmidt et al. possibly had this disorder.

Etiology

Autosomal dominant inheritance has been suggested, but the causative gene has not yet been identified.

- Last update: November 2009

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.