Achondroplasia is a disorder of bone growth that causes the most common type of dwarfism.
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.
The typical appearance of achondroplastic dwarfism can be seen at birth. Symptoms may include:
There is no specific treatment for achondroplasia. Related abnormalities, including spinal stenosis and spinal cord compression, should be treated when they cause problems.
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.
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.
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.
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.
Health problems that may develop include:
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.
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.
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.
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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.