Costello syndrome, also known as faciocutaneoskeletal syndrome, is a rare RASopathy that involves multiple organs of the body.
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Clinical presentation
Patients demonstrate a constellation of features including:
cutis laxa: extra skin loosening of the neck, palms, and soles of the feet
developmental delay
multiple papillomata: on the face and around the anus
cardiac abnormalities
short stature
a characteristic facial profile: low set ears, thick lips, macrocephaly, depressed nasal bridge, widening of nostrils
Pathology
Genetics
It is a autosomal dominant condition. The HRAS gene mutation on chromosome 11 is reported in almost all cases of Costello syndrome. Patients are diagnosed based on clinical features alongside genetic testing.
Treatment and prognosis
Complications
Patients have an increased risk for cancers such as embryonal rhabdomyosarcoma, bladder cancer, and neuroblastoma.
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