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Costello syndrome
Background
Costello syndrome: Faciocutaneoskeletal syndrome; FCS syndrome
Costello syndrome (CS) is a rare genetic condition, first described in 1977 by Dr J M Costello. Approximately one hundred and fifty individuals worldwide are known to be affected. CS may affect many different body systems, but the range and severity of health problems varies widely. Developmental delay is always present, but the degree of this is also highly variable.
Babies with CS are usually of normal birth weight. Polyhydramnios (excessive amniotic fluid in pregnancy) may have been present. From birth, children with CS have feeding difficulties, which include a severe aversion to taking solids or fluids orally and reflux (vomiting after feeding). Some babies require tube or gastrostomy feeding. Infants may be significantly irritable and hypersensitive to sound and tactile stimuli, and this may cause disturbed sleep. These features tend to resolve between the ages of two to four years.
There is an increased incidence of congenital abnormalities of the heart (see entry, Heart defects). The range of heart problems associated with CS includes Hypertrophic Cardiomyopathy (see entry, Cardiomyopathies), Pulmonic Stenosis, Mitral Valve Prolapse, Ventricular Septal defect and abnormalities of heart rhythm.
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