Learn About Achondroplasia

What is the definition of Achondroplasia?

Achondroplasia is a disorder of bone growth that causes the most common type of dwarfism.

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What are the causes of Achondroplasia?

Achondroplasia is one of a group of disorders called chondrodystrophies, or osteochondrodysplasias.

Achondroplasia may be inherited as an autosomal dominant trait, which means that if a child gets the defective gene from one parent, the child will have the disorder. If one parent has achondroplasia, the infant has a 50% chance of inheriting the disorder. If both parents have the condition, the infant's chances of being affected increase to 75%.

However, most cases appear as spontaneous mutations. This means that two parents without achondroplasia may give birth to a baby with the condition.

What are the symptoms of Achondroplasia?

The typical appearance of achondroplastic dwarfism can be seen at birth. Symptoms may include:

  • Abnormal hand appearance with persistent space between the long and ring fingers
  • Bowed legs
  • Decreased muscle tone
  • Disproportionately large head-to-body size difference
  • Prominent forehead (frontal bossing)
  • Shortened arms and legs (especially the upper arm and thigh)
  • Short stature (significantly below the average height for a person of the same age and sex)
  • Narrowing of the spinal column (spinal stenosis)
  • Spine curvatures called kyphosis and lordosis
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What are the current treatments for Achondroplasia?

There is no specific treatment for achondroplasia. Related abnormalities, including spinal stenosis and spinal cord compression, should be treated when they cause problems.

Who are the top Achondroplasia Local Doctors?
Elite
Highly rated in
35
conditions

University Of Melbourne

Parkville, VIC, AU 

Ravi Savarirayan is in Parkville, Australia. Savarirayan is rated as an Elite expert by MediFind in the treatment of Achondroplasia. He is also highly rated in 35 other conditions, according to our data. His top areas of expertise are Achondroplasia, Type A Insulin Resistance Syndrome, Acanthosis Nigricans, and Chondrodystrophy.

Elite
Highly rated in
44
conditions

Osaka University Graduate School Of Medicine

Department Of Pediatrics, Osaka University 
Suita, JP 

Keiichi Ozono is in Suita, Japan. Ozono is rated as an Elite expert by MediFind in the treatment of Achondroplasia. They are also highly rated in 44 other conditions, according to our data. Their top areas of expertise are Achondroplasia, Hypophosphatasia, Hereditary Hypophosphatemic Rickets, and Rickets.

 
 
 
 
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Elite
Highly rated in
23
conditions

Guy's And St Thomas' NHS Foundation Trust

London, ENG, GB 

Melita Irving is in London, United Kingdom. Irving is rated as an Elite expert by MediFind in the treatment of Achondroplasia. She is also highly rated in 23 other conditions, according to our data. Her top areas of expertise are Achondroplasia, Acanthosis Nigricans, Type A Insulin Resistance Syndrome, and Deafness Hypogonadism Syndrome.

What is the outlook (prognosis) for Achondroplasia?

People with achondroplasia seldom reach 5 feet (1.5 meters) in height. Intelligence is in the normal range. Infants who receive the abnormal gene from both parents do not often live beyond a few months.

What are the possible complications of Achondroplasia?

Health problems that may develop include:

  • Breathing problems from a small upper airway and from pressure on the area of the brain that controls breathing
  • Lung problems from a small ribcage
When should I contact a medical professional for Achondroplasia?

If there is a family history of achondroplasia and you plan to have children, you may find it helpful to speak to your health care provider.

How do I prevent Achondroplasia?

Genetic counseling may be helpful for prospective parents when one or both have achondroplasia. However, because achondroplasia most often develops spontaneously, prevention is not always possible.

What are the latest Achondroplasia Clinical Trials?
A Randomized, Controlled, Open-label Clinical Trial With an Open-label Extension to Investigate the Safety of Vosoritide in Infants and Young Children With Achondroplasia at Risk of Requiring Cervicomedullary Decompression Surgery
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ACHieve: A Multi-center, Longitudinal, Observational Study of Children With Achondroplasia
What are the Latest Advances for Achondroplasia?
Impact of achondroplasia on Latin American patients: a systematic review and meta-analysis of observational studies.
Growth in achondroplasia including stature, weight, weight-for-height and head circumference from CLARITY: achondroplasia natural history study-a multi-center retrospective cohort study of achondroplasia in the US.
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Hearing loss in Norwegian adults with achondroplasia.
Who are the sources who wrote this article ?

Published Date : October 02, 2019
Published By : Neil K. Kaneshiro, MD, MHA, Clinical Professor of Pediatrics, University of Washington School of Medicine, Seattle, WA. 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 ?

Hoover-Fong JE, Horton WA, Hecht JT. Disorders involving transmembrane receptors. In: Kliegman RM, St Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. Nelson Textbook of Pediatrics. 21st ed. Philadelphia, PA: Elsevier; 2020:chap 716.

Krakow D. FGFR3 disorders: thanatophoric dysplasia, achondroplasia, and hypochondroplasia. In: Copel JA, D'Alton ME, Feltovich H, et al, eds. Obstetric Imaging: Fetal Diagnosis and Care. 2nd ed. Philadelphia, PA: Elsevier; 2018:chap 50.