Acrodysostosis

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.

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

Cause

Most reported cases have been sporadic, but it has been suggested that the condition might be genetically related i.e. in an autosomal dominant mode of transmission. Both males and females are affected. The disorder has been associated with the older age of parents at the time of conception.

A PRKAR1A mutation has been identified in acrodysostosis with hormone resistance.[4]

Epidemiology

This disorder is present at birth, however, it may not be understood until several years after birth. Acrodysostosis affects males and females in almost similar numbers. It is difficult to determine the frequency of acrodysostosis in the population as many cases of this disorder cannot be diagnosed properly.[5]

References
  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. Linglart A, Menguy C, Couvineau A, et al. (June 2011). "Recurrent PRKAR1A mutation in acrodysostosis with hormone resistance". N. Engl. J. Med. 364 (23): 2218–26. doi:10.1056/NEJMoa1012717. PMID 21651393.
  5. http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/613/printFullReport
Classification
External resources
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