Acrodysostosis
| Acrodysostosis syndrome | |
|---|---|
| Classification and external resources | |
| OMIM | 101800 |
| DiseasesDB | 31405 |
| MedlinePlus | 001248 |
Acrodysostosis also known as Arkless-Graham syndrome[1] or Maroteaux-Malamut syndrome[2][3] 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 faces. 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.
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]
External links
- "Acrodysostosis: Disease Information from NORD". National Organization for Rare Disorders.
- Acrodysostosis at NIH's Office of Rare Diseases
References
- ↑ 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. PMID 6020652.
- ↑ Maroteaux P, Malamut G (1968). "[Acrodysostosis]". Presse Med (in French) 76 (46): 2189–92. PMID 5305130.
- ↑ synd/1623 at Who Named It?
- ↑ 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.