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Synonym(s) Acrodysplasia
Arkless-Graham syndrome
Maroteaux-Malamut syndrome
Prevalence Unknown
Inheritance Autosomal dominant
Age of onset Neonatal
  • Q75.4
  • C0220659
  • C538179
MedDRA -


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, intellectual disability 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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