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.
Age factor
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
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