Costello Syndrome

Costello syndrome is a rare inherited disorder. Children with it
are born with a normal or slightly high birth weight.

Typical features, which become more obvious as the child grows, include:

Short stature
Delayed bone age
Loose, lax, stretchy skin – around the neck, palms, soles and fingers
Curly hair
Papillomata (small fleshy growths) around the mouth and nose
A characteristic facial appearance (wide nostrils, depressed nasal bridge, low-set ears with large earlobes)
Broad mouth and thick lips
Pigmented skin
Drooping of the upper eyelid (ptosis)
Squint (strabismus)

Heart problems such as hypertrophic cardiomyopathy or abnormal heart rhythms are common, as is reflux or flowing back of the contents of the stomach into the gullet, which may cause feeding problems. There may be an increased risk of various cancers.

Affected children may have learning difficulties, but many have warm social personalities.

There’s no cure for Costello syndrome but treatments are in development. However, supportive care – from help with feeding in early childhood to special education – and treatment for complications such as heart problems can help affected children reach their potential.