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Acrodysostosis

Orpha number ORPHA950
Synonym(s) Acrodysplasia
Arkless-Graham syndrome
Maroteaux-Malamut syndrome
Prevalence Unknown
Inheritance Autosomal dominant
Age of onset Neonatal
Antenatal
ICD-10
  • Q75.4
ICD-O -
OMIM
UMLS
  • C0220659
MeSH
  • C538179
MedDRA -

Summary

Acrodysostosis is an extremely rare disorder characterized by abnormally short and malformed bones of the hands and feet (peripheral dysostosis), nasal hypoplasia and mental retardation. Other findings include progressive growth delays, short stature, unusual head and characteristic facies. Occasionally, abnormal interpedicular spinal spaces, increased mandibular angle and hearing loss have been observed. Widespread epiphyseal stippling and the metacarpophalangeal pattern profile could be useful as diagnostic tools. The aetiology and the prevalence are unknown. Many reported cases are sporadic; some are familial and are transmitted in an autosomal dominant manner. Prenatal diagnosis relies on high-resolution real-time ultrasonography. There is no treatment or specific preventive measures. Consultation with an orthopedist and podiatrist, as well as learning support should be offered.

Expert reviewer(s)

  • Dr Martine LE MERRER

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Detailed information

Review article
  • EN (2005,pdf)
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