A-Z of syndromes: Achondroplasia
Achondroplasia, like all syndromes, is recognised by a collection of typical anomalies. It is a cause of short stature; the average adult height being about 4 feet.
It can be inherited as an autosomal dominant genetic condition. A parent with the condition has a 50% chance of passing it on to their children. Although most children with achondroplasia have parents of average height, it occurs because of a sporadic genetic mutation and is responsible for 75-80% of affected children.
Advancing paternal age may be a causative factor. If both parents are affected, the outcome can be poor with high infant mortality.
Individuals are short; a typical face with large to above average size head, small midface and a flat nasal ridge. They...
Want to read more?
Unlock full access to RCNi Plus today
Save over 50% on your first three months:
- Customisable clinical dashboard featuring 200+ topics
- Unlimited online access to all 10 RCNi Journals including Nursing Children and Young People
- RCNi Learning featuring 180+ RCN accredited learning modules
- NMC-compliant RCNi Portfolio to build evidence for revalidation
- Personalised newsletters tailored to your interests