An extremely rare birth disorder characterized by mental retardation and a variety of physical defects.
* Underdeveloped cheek bones * Downward slanting space between eyelids * Coloboma * Lower lid ectropia * Cleft lip
The diagnosis of Beckwith-Wiedemann syndrome relies primarily on clinical findings. Cytogenetically detectable abnormalities involving 11p15 are found in 1% or less of cases. Clinically available molecular genetic testing can identify several different types of 11p15 abnormalities in individuals with BWS: (1) loss of methylation at DMR2 is observed in 50% of individuals; (2) gain of methylation at DMR1 is observed in 2% to 7%; (3) paternal uniparental disomy for chromosome11p15 is observed in 10-20%.
Management for BWS includes treatment of hypoglycemia to reduce the risk of central nervous system complications, abdominal wall and omphalocele repair in neonates, endotracheal intubation for insufficient airway, and use of specialized nipples or nasogastric tube feedings to manage feeding difficulties resulting from macroglossia. Children with enlarged tongues may benefit from surgery performed between two and four years of age and from speech therapy. Surgery may be performed during puberty to equalize different leg lengths; craniofacial surgery may benefit individuals with facial hemihyperplasia. Screening for embryonal tumors is performed by abdominal ultrasound examination every three months until eight years of age.