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Spondylometaphyseal dysplasia, 'corner fracture' type

Disease definition

Spondylometaphyseal dysplasia, 'corner fracture' type is a skeletal dysplasia associated with short stature, developmental coxa vara, progressive hip deformity, simulated 'corner fractures' of long tubular bones and vertebral body abnormalities (mostly oval vertebral bodies).

ORPHA:93315

Classification level: Disorder
  • Synonym(s):
    • Spondylometaphyseal dysplasia, Sutcliffe type
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal dominant 
  • Age of onset: Neonatal, Infancy, Childhood
  • ICD-10: Q77.8
  • ICD-11: LD24.4
  • OMIM: 184255
  • UMLS: C0432221
  • MeSH: C535793
  • GARD: 4991
  • MedDRA: -

Summary

Epidemiology

Less than 30 patients have been reported in the literature.

Clinical description

Tetralogy of Fallot and odontoid hypoplasia have been reported in single patients with this syndrome.

Etiology

Currently, there are no human genes associated with the disease.

Genetic counseling

Autosomal dominant inheritance has been suggested.

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

  A summary on this disease is available in Español (2009) Français (2009) Nederlands (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.