Collins–Pope syndrome | |
---|---|
Other names | Dislocation of the hip-dysmorphism syndrome |
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Specialty | Medical genetics |
Symptoms | Congenital dislocation of the hip with facial dysmorphisms and joint hypermobility as the main characteristic of the syndrome. |
Usual onset | Birth |
Duration | Lifelong |
Causes | Genetic mutation |
Prevention | none |
Prognosis | Good |
Deaths | - |
Collins–Pope syndrome, also known as Dislocation of the hip-dysmorphism syndrome, [1] 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. [2] [3] Additional findings include congenital heart defects, congenital knee dislocation, congenital inguinal hernia, and vesicoureteric reflux. [4] It has been described in 4 members of a 2-generation family in the United Kingdom. [5] [6]
{{
cite web}}
: CS1 maint: numeric names: authors list (
link)
Collins–Pope syndrome | |
---|---|
Other names | Dislocation of the hip-dysmorphism syndrome |
![]() | |
Specialty | Medical genetics |
Symptoms | Congenital dislocation of the hip with facial dysmorphisms and joint hypermobility as the main characteristic of the syndrome. |
Usual onset | Birth |
Duration | Lifelong |
Causes | Genetic mutation |
Prevention | none |
Prognosis | Good |
Deaths | - |
Collins–Pope syndrome, also known as Dislocation of the hip-dysmorphism syndrome, [1] 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. [2] [3] Additional findings include congenital heart defects, congenital knee dislocation, congenital inguinal hernia, and vesicoureteric reflux. [4] It has been described in 4 members of a 2-generation family in the United Kingdom. [5] [6]
{{
cite web}}
: CS1 maint: numeric names: authors list (
link)