Learn About Acrodysostosis

What is the definition of 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.

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What are the alternative names for Acrodysostosis?

Arkless-Graham; Acrodysplasia; Maroteaux-Malamut

What are the causes of Acrodysostosis?

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 the disorder to their children.

There is a slightly greater risk with fathers who are older.

What are the symptoms of Acrodysostosis?

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
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What are the current treatments for Acrodysostosis?

Treatment depends on the symptoms.

Hormones, such as growth hormone, may be given. Surgery to treat bone problems may be done.

Who are the top Acrodysostosis Local Doctors?
Elite
Highly rated in
45
conditions

INFN Sezione Di Perugia

Endocrinology Unit 
Milan, IT 

Giovanna Mantovani is in Milan, Italy. Mantovani is rated as an Elite expert by MediFind in the treatment of Acrodysostosis. She is also highly rated in 45 other conditions, according to our data. Her top areas of expertise are Albright's Hereditary Osteodystrophy, Pseudohypoparathyroidism, Acrodysostosis, and Dysostosis Peripheral.

Elite
Highly rated in
23
conditions

Hôpital Cochin

Paris, FR 

Caroline Silve is in Paris, France. Silve is rated as an Elite expert by MediFind in the treatment of Acrodysostosis. She is also highly rated in 23 other conditions, according to our data. Her top areas of expertise are Dysostosis Peripheral, Acrodysostosis, Brachydactyly, and Pseudohypoparathyroidism.

 
 
 
 
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Elite
Highly rated in
25
conditions

Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico

Endocrinology Unit 
Milan, IT 

Francesca Elli is in Milan, Italy. Elli is rated as an Elite expert by MediFind in the treatment of Acrodysostosis. She is also highly rated in 25 other conditions, according to our data. Her top areas of expertise are Albright's Hereditary Osteodystrophy, Pseudohypoparathyroidism, Acrodysostosis, and Progressive Osseous Heteroplasia.

What are the support groups for Acrodysostosis?

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
What is the outlook (prognosis) for Acrodysostosis?

Problems depend on the degree of skeletal involvement and intellectual disability. In general, people do well.

What are the possible complications of Acrodysostosis?

Acrodysostosis may lead to:

  • Learning disability
  • Arthritis
  • Carpal tunnel syndrome
  • Worsening range of movement in the spine, elbows, and hands
When should I contact a medical professional for Acrodysostosis?

Call your child's provider if signs acrodystosis develop. Make sure your child's height and weight are measured during each well-child visit. The 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
How do I prevent Acrodysostosis?

Anterior skeletal anatomy
What are the latest Acrodysostosis Clinical Trials?
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What are the Latest Advances for Acrodysostosis?
Gαs-Protein Kinase A (PKA) Pathway Signalopathies: The Emerging Genetic Landscape and Therapeutic Potential of Human Diseases Driven by Aberrant Gαs-PKA Signaling.
Molecular diagnosis in a cohort of 114 patients with rare skeletal dysplasias.
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Respiratory impairment in a patient with acrodysostosis: A rare association of an uncommon pathology.
Who are the sources who wrote this article ?

Published Date : October 27, 2020
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 Zieve, MD, MHA, Medical Director, Brenda Conaway, Editorial Director, and the A.D.A.M. Editorial team.

What are the references for this article ?

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. 7th ed. Philadelphia, PA: Elsevier Saunders; 2013:560-593.

National Organization for Rare Disorders website. Acrodysostosis. rarediseases.org/rare-diseases/acrodysostosis. Accessed February 1, 2021.

Silve C, Clauser E, Linglart A. Acrodysostosis. Horm Metab Res. 2012;44(10):749-758. PMID: 22815067 pubmed.ncbi.nlm.nih.gov/22815067/.