Acrodysostosis Overview
Learn About Acrodysostosis
Acrodysostosis is an extremely rare disorder that is present at birth (congenital). It leads to problems with the bones of the hands, feet, and nose, and intellectual disability.
Arkless-Graham; Acrodysplasia; Maroteaux-Malamut
Most people with acrodysostosis have no family history of the disease. However, sometimes the condition is passed down from parent to child. Parents with the condition have a 1 in 2 chance of passing it to their children.
There is a slightly greater risk for children with fathers who are 45 and older at the time of conception.
Symptoms of this disorder include:
- Frequent middle ear infections
- Growth problems, short arms and legs
- Hearing problems
- Intellectual disability
- The body doesn't respond to certain hormones, even though hormone levels are normal
- Distinct facial features
Treatment depends on the symptoms.
Hormones, such as growth hormone, may be given. Surgery to treat bone problems may be done.
Caroline Silve practices in Paris, France. Ms. Silve is rated as an Elite expert by MediFind in the treatment of Acrodysostosis. Her top areas of expertise are Dysostosis Peripheral, Acrodysostosis, Albright's Hereditary Osteodystrophy, Pseudohypoparathyroidism, and Hepato-Pancreato-Biliary Surgery.
Agnes Linglart practices in Paris, France. Ms. Linglart is rated as an Elite expert by MediFind in the treatment of Acrodysostosis. Her top areas of expertise are X-Linked Hypophosphatemia, Rickets, Hypophosphatemia, Pseudohypoparathyroidism, and Osteotomy.
Catherine Le Stunff practices in Paris, France. Ms. Le Stunff is rated as an Elite expert by MediFind in the treatment of Acrodysostosis. Her top areas of expertise are Acrodysostosis, Dysostosis Peripheral, Adrenoleukodystrophy (ALD), and Addison's Disease.
These groups can provide more information on acrodysostosis:
- National Organization for Rare Disorders -- rarediseases.org/rare-diseases/acrodysostosis
- NIH Genetic and Rare Diseases Information Center -- rarediseases.info.nih.gov/diseases/5724/acrodysostosis
Problems depend on the degree of skeletal involvement and intellectual disability. In general, people do well.
Acrodysostosis may lead to:
- Learning disability
- Arthritis
- Carpal tunnel syndrome
- Worsening range of movement in the spine, elbows, and hands
Contact your child's provider if signs of acrodystosis develop. Make sure your child's height and weight are measured during each well-child visit. Your child's provider may refer you to:
- A genetic professional for a full evaluation and chromosome studies
- A pediatric endocrinologist for management of your child's growth problems
Summary: CoRDS, or the Coordination of Rare Diseases at Sanford, is based at Sanford Research in Sioux Falls, South Dakota. It provides researchers with a centralized, international patient registry for all rare diseases. This program allows patients and researchers to connect as easily as possible to help advance treatments and cures for rare diseases. The CoRDS team works with patient advocacy groups, in...
Published Date: November 06, 2024
Published By: Anna C. Edens Hurst, MD, MS, Associate Professor in Medical Genetics, The University of Alabama at Birmingham, Birmingham, AL. Review provided by VeriMed Healthcare Network. Also reviewed by David C. Dugdale, MD, Medical Director, Brenda Conaway, Editorial Director, and the A.D.A.M. Editorial team.
Hoover-Fong JE, Albokhari D. General considerations in skeletal dysplasias. In: Kliegman RM, St. Geme JW, Blum NJ, et al, eds. Nelson Textbook of Pediatrics. 22nd ed. Philadelphia, PA: Elsevier; 2025:chap 735.
Jones KL, Jones MC, del Campo M. Other skeletal dysplasias. In: Jones KL, Jones MC, del Campo M, eds. Smith's Recognizable Patterns of Human Malformation. 8th ed. Philadelphia, PA: Elsevier; 2022:600-637.
National Organization for Rare Disorders website. Acrodysostosis. rarediseases.org/rare-diseases/acrodysostosis. Updated August 13, 2014. Accessed November 12, 2024.