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Costello syndrome
Background
Costello syndrome (CS) is a rare genetic condition, first described in 1977 by Dr J M Costello. Approximately 250 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 large 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 (where food is placed in the baby’s stomach so they do not have to swallow it). Infants may be significantly irritable and hypersensitive to sound and tactile stimuli, and this may cause disturbed sleep. These features resolve between the ages of two and four years in most children.
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.
In a small number of babies, cardiomyopathy may be very severe in the newborn period, and contribute to death in infancy. In this small group of very ill babies, hypoglycaemia (low blood sugar) and breathing difficulties are also common.
