Acrodysostosis Explained

Acrodysostosis syndrome
Synonyms:Arkless-Graham syndrome,[1] Maroteaux-Malamut syndrome[2]

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.[3] [4]

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.[5] [6]

Signs and Symptoms

Acrodysostosis presents with a wide spectrum of clinical manifestations. The following is a list of conditions and complications associated with acrodysostosis.[7]

Bone issues

Endocrine

Behavioural / Developmental / Emotional

Craniofacial and dental

Cardiology

Causes

Acrodysostosis is believed to be caused by mutations in the PRKAR1A gene (type 1) or the PDE4D gene (type 2). 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.[8]

Treatment

There are currently no approved treatments or standardised treatment guidelines for acrodysostosis.[9] Management of acrodysostosis typically focuses on addressing specific symptoms that occur in each individual and may include surgery, physical therapy and special education.

Research

A number of transgenic mouse models have been generated that harbour genetic mutations within genes linked to the condition in humans. These mouse models exhibit phenotypes similar to that observed in Acrodysostosis in humans.[10]

Media

The actress Olivia Colman partnered with the charity Acrodysostosis Support and Research to raise awareness for the disease. She participated in a promotional video campaign in December 2020.

External links

Notes and References

  1. Arkless R, Graham CB . An unusual case of brachydactyly. Peripheral dysostosis? Pseudo-pseudo-hypoparathyroidism? Cone epiphyses? . Am J Roentgenol Radium Ther Nucl Med . 99 . 3 . 724–35 . 1967 . 6020652 . 10.2214/ajr.99.3.724.
  2. Maroteaux P, Malamut G . [Acrodysostosis] . fr . Presse Med . 76 . 46 . 2189–92 . 1968 . 5305130 .
  3. Web site: Acrodysostosis . Mount Sinai . 5 October 2021.
  4. Web site: What is acrodysostosis? . Acrodysostosis Support and Research . 5 October 2021.
  5. Web site: Acrodysostosis . Mount Sinai . 5 October 2021.
  6. Web site: What is acrodysostosis? . Acrodysostosis Support and Research . 5 October 2021.
  7. Web site: OMIM Clinical Synopsis – #101800 – ACRODYSOSTOSIS 1 WITH OR WITHOUT HORMONE RESISTANCE; ACRDYS1 . www.omim.org . Johns Hopkins University.
  8. Linglart A, Menguy C, Couvineau A . Recurrent PRKAR1A mutation in acrodysostosis with hormone resistance . N. Engl. J. Med. . 364 . 23 . 2218–26 . June 2011 . 21651393 . 10.1056/NEJMoa1012717 . etal. free .
  9. Web site: Acrodysostosis . rarediseases.org . National Organization for Rare Disorders (NORD).
  10. Web site: Mouse Genome Informatics site . MGI . The Jackson Laboratory.

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