A to Z of syndromes

A-Z of syndromes: Achondroplasia

Part one of a new series for students looking at disorders and diseases with common symptoms that constitute a syndrome.
Ellie Simmonds

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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