Bartsocas-Papas syndrome
{{Short description|Autosomal recessive form of popliteal pterygium syndrome}}
{{Infobox medical condition
|name =
|synonyms = Autosomal recessive popliteal pterygium syndrome, Lethal popliteal pterygium syndrome
|image = Autosomal recessive - en.svg
|caption = This condition is inherited in an autosomal recessive manner.
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Bartsocas-Papas syndrome is an autosomal recessive form of popliteal pterygium syndrome. It was first described by Dr. Christos Bartsocas.
Symptoms
Bartsocas-Papas syndrome is a very rare disease characterized by congenital craniofacial anomalies, popliteal webbing, and genitourinary and musculoskeletal anomalies.{{Cite web |title=Orphanet: Bartsocas-Papas syndrome |url=https://www.orpha.net/en/disease/detail/1234 |access-date=2024-11-25 |website=www.orpha.net}}{{Cite web |title=Bartsocas-Papas syndrome {{!}} About the Disease {{!}} GARD |url=https://rarediseases.info.nih.gov/diseases/4436/bartsocas-papas-syndrome |access-date=2024-11-25 |website=rarediseases.info.nih.gov |language=en}}
Causations
Bartsocas-Papas syndrome is caused by genetic mutations. These can be hereditary, when parents pass them down to their children, or they may occur randomly. Genetic mutations may also result from viruses, environmental factors, e.g. UV radiation from sunlight exposure, or a combination of these factors.
References
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Further reading
- {{cite journal |last=Josh |first=Fonny |last2=Soekamto |first2=Tomie Hermawan |last3=Marzoeki |first3=Djohansjah |last4=Faruk |first4=Muhammad |title=Bartsocas-Papas syndrome: The first case report of severe autosomal recessive form from Indonesia |journal=International Journal of Surgery Case Reports |volume=79 |date=2021 |pmid=33529824 |pmc=7851448 |doi=10.1016/j.ijscr.2021.01.070 |doi-access=free |pages=436–439 | ref=none }}
- {{cite journal |last=Nikhat |first=Fareeda |last2=Fernandes |first2=Shalini Dolly |last3=Mashharawi |first3=Nabilah |last4=Bahutair |first4=Shadha |title=Bartsocas-Papas Syndrome: Case Report |journal=Dubai Medical Journal |volume=5 |issue=2 |date=2022-01-05 |issn=2571-726X |doi=10.1159/000520991 |doi-access=free |pages=125–128 | ref=none }}
External links
- {{cite web |title=Bartsocas-Papas syndrome |website=UniProt |url=https://www.uniprot.org/diseases/DI-03375 |ref=none |access-date=2024-12-02}}
{{Medical resources
| ICD11 = {{ICD11|LD26.4Y}}
| ICD10 = {{ICD10|Q87.2}}
| ICD10CM =
| ICD9 = {{ICD9|759.89}}
| ICDO =
| OMIM = 263650
| OMIM_mult = {{OMIM|619339||none}}
| MeshID = C564874
| DiseasesDB =
| SNOMED CT = 722376008
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| GARDNum = 4436
| GARDName = Bartsocas-Papas syndrome
| RP = 13483
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| Orphanet = 1234
| Scholia = Q9390213
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Category:Rare genetic syndromes