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Acrodysostosis

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

Summary

Acrodysostosis is a rare primary bone dysplasia characterized by severe brachydactyly, peripheral dysostosis (metacarpals and metatarsals that are abnormally short and malformed) with facial dysostosis (broad face, widely spaced eyes and maxillonasal hypoplasia), nasal hypoplasia, and developmental delay. Advanced skeletal maturation is a constant finding while spinal stenosis, short stature in adulthood, mental retardation and hormonal resistance (to parathyroid hormone and thyroid stimulating hormone) are sometimes reported. Sporadic and familial cases have been described and it is phenotypically related to diseases presenting with Albright hereditary osteodystrophy (see these terms).


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Detailed information

Review article
  • EN (2005,pdf)
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