Medicine:Collins-Pope syndrome
From HandWiki
| 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]
References
- ↑ Roberts, Sean. "Collins Pope syndrome" (in en-US). https://rarediseases.org/gard-rare-disease/collins-pope-syndrome/.
- ↑ "Collins Pope syndrome - About the Disease - Genetic and Rare Diseases Information Center" (in en). https://rarediseases.info.nih.gov/diseases/1428/collins-pope-syndrome.
- ↑ Bissonnette, Bruno; Luginbuehl, Igor; Marciniak, Bruno; Dalens, Bernard J. (2006), "Collins-Dennis-Clarke-Pope Syndrome", Syndromes: Rapid Recognition and Perioperative Implications (New York, NY: The McGraw-Hill Companies), http://accessanesthesiology.mhmedical.com/content.aspx?aid=58067061, retrieved 2022-07-12
- ↑ RESERVED, INSERM US14-- ALL RIGHTS. "Orphanet: Collins Pope syndrome" (in en). https://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=2239&Disease_Disease_Search_diseaseType=ORPHA&Disease_Disease_Search_diseaseGroup=2412&Disease(s)/group%20of%20diseases=Collins-Pope-syndrome&title=Collins-Pope-syndrome&search=Disease_Search_Simple.
- ↑ Collins, A. L.; Dennis, N. R.; Clarke, N.; Pope, F. M. (1995-10-01). "A mother and three daughters with congenital dislocation of the hip and a characteristic facial appearance: a new syndrome?". Clinical Dysmorphology 4 (4): 277–282. doi:10.1097/00019605-199510000-00001. ISSN 0962-8827. PMID 8574416. https://pubmed.ncbi.nlm.nih.gov/8574416/.
- ↑ "Entry - 601450 - Dislocation of hip, congenital, with hyperextensibility of the fingers and facial dysmorphism - OMIM" (in en-us). https://omim.org/entry/601450#1.
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