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About: Collins-Pope syndrome     Goto   Sponge   NotDistinct   Permalink

An Entity of Type : dbo:Disease, within Data Space : dbpedia.org associated with source document(s)

Type: ThingDiseasedisease New Facet based on Instances of this Class

Collins-Pope syndrome, also known as Dislocation of the hip-dysmorphism syndrome, is a rare autosomal dominant genetic disorder which is characterized by bilateral congenital hip dislocation, flattened mid-face, hypertelorism, epicanthus, puffy eyes, broad nasal bridge, carp-shaped mouth, and joint hypermobility. Additional findings include congenital heart defects, congenital knee dislocation, congenital inguinal hernia, and vesicoureteric reflux. It has been described in 4 members of a 2-generation family in the United Kingdom.