NeurometPlus

Incidence

Autosomal dominant. May be recessive. Most cases have been sporadic, suggesting de novo dominant mutations.Majority of cases are sporadic. Associated with advanced paternal age.

Clinical Characteristics

Costello syndrome is characterized by postnatal growth deficiency, coarse facies, redundant skin on the neck, palms, soles, and fingers, dark skin, acanthosis nigricans, and papillomata. The natural history evolves in two phases, a severe failure to thrive during the first months contrasting with a normal weight gain in later life. Cardiomyopathy is frequent but other visceral involvement is rare. Mild to moderate mental retardation is usual and most patients exhibit a characteristic sociable and friendly personality. The pathogenesis and molecular basis of the syndrome are unknown and the diagnosis is reliant on clinical expertise. Papillomata represent the most characteristic manifestation but may arise late in life. The peculiar course of the disease, the typical facies, and the ectodermal involvement with loose and hyper pigmented skin are characteristic enough to allow an early diagnosis. Most cases have been sporadic, suggesting de novo dominant mutations. Costello Syndrome is an extremely rare disorder characterized by growth delay after birth (postnatal), leading to short stature; excessive, redundant loose skin on the neck, palms of the hands, fingers, and soles of the feet; development of benign (non-cancerous) growths (papillomata) around the mouth (perioral) and nostrils (nares); mental retardation; and/or characteristic facial appearance. Other physical features may include the development of dry hardened skin on the palms of the hands and the soles of the feet (palmoplantar hyperkeratosis), abnormally deep creases on the palms and soles, and/or abnormally flexible joints of the fingers (hyperextensible). There is an increased incidence of congenital abnormalities of the heart and thickening of the heart muscle called a cardiomyopathy. Characteristic craniofacial features may include an abnormally large head (macrocephaly); low-set ears with large, thick lobes; unusually thick lips; and/or abnormally wide nostrils (nares). Most cases of Costello Syndrome are isolated with no other affected family members (sporadic). The exact cause of Costello Syndrome is unknown. Majority of cases are sporadic. Associated with advanced paternal age. Poor suck in infancy. Sudden death.

Precipitants

no

Provocation Tests

no

Diagnostic Procedures

The peculiar course of the disease, the typical facies, and the ectodermal involvement with loose and hyper pigmented skin are characteristic enough to allow an early diagnosis.