Clinical features: A genetic disorder of bone growth, achondroplasia is the most common cause of short stature characterized by disproportionately short limbs, especially in the upper body, humerus and femur. This disproportionate pattern is known as rhizomelia. Intelligence and lifespan are usually unaffected by the condition.
Incidence: 1 in 25,000 live births.
Inheritance: Autosomal dominant, 80% of cases represent new mutations.
Gene: Fibroblast growth factor receptor-3 gene (FGFR3) on chromosome 4. One common mutation is seen in more than 99% of affected individuals.
Prenatal diagnosis: Yes. Please refer to your local clinical genetics service prior to a pregnancy. This ensures the family receives appropriate advice and investigations to confirm whether or not prenatal diagnosis is possible.
UK Support Group: Child Growth Foundation, 2 Mayfield Avenue, Chiswick, London W4 1PW Tel: 020 8994 7625 / 020 8995 0257 Fax: 020 8995 9075 e-mail: cgflondon@aol.com Web: www.childgrowthfoundation.org
If you would like further information on achondroplasia, please go to either:-
The Least You Need to Know Coffee Break Summary Pitfalls to Avoid Find Out More Clinical Scenarios
at Genepool - Achondroplasia
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