Acrodysostosis

Acrodysostosis syndrome
Other namesArkless-Graham syndrome,[1] Maroteaux-Malamut syndrome[2][3]

Acrodysostosis is a rare congenital malformation syndrome which involves shortening of the interphalangeal joints of the hands and feet, intellectual disability in approximately 90% of affected children, and peculiar facies. Other common abnormalities include short head (as measured front to back), small broad upturned nose with flat nasal bridge, protruding jaw, increased bone age, intrauterine growth retardation, juvenile arthritis and short stature. Further abnormalities of the skin, genitals, teeth, and skeleton may occur.[4][5]

Other common abnormalities include short head (as measured front to back), small broad upturned nose with flat nasal bridge, protruding jaw, increased bone age, intrauterine growth retardation, juvenile arthritis and short stature. Further abnormalities of the skin, genitals, teeth, and skeleton may occur.[6][7]

  1. ^ Arkless R, Graham CB (1967). "An unusual case of brachydactyly. Peripheral dysostosis? Pseudo-pseudo-hypoparathyroidism? Cone epiphyses?". Am J Roentgenol Radium Ther Nucl Med. 99 (3): 724–35. doi:10.2214/ajr.99.3.724. PMID 6020652.
  2. ^ Maroteaux P, Malamut G (1968). "[Acrodysostosis]". Presse Med (in French). 76 (46): 2189–92. PMID 5305130.
  3. ^ synd/1623 at Who Named It?
  4. ^ "Acrodysostosis". Mount Sinai. Retrieved 5 October 2021.
  5. ^ "What is acrodysostosis?". Acrodysostosis Support and Research. Retrieved 5 October 2021.
  6. ^ "Acrodysostosis". Mount Sinai. Retrieved 5 October 2021.
  7. ^ "What is acrodysostosis?". Acrodysostosis Support and Research. Retrieved 5 October 2021.