Bartsocas-Papas syndrome
| Bartsocas-Papas syndrome | |
|---|---|
| Other names | Autosomal recessive popliteal pterygium syndrome, Lethal popliteal pterygium syndrome |
 | |
| The first reported case of Bartsocas-Papas Syndrome. | |
| Specialty | Medical genetics  |
Bartsocas-Papas syndrome is an autosomal recessive form of popliteal pterygium syndrome.[1][2][3] It was first described by Christos S. Bartsocas and Costas V. Papas.[2]
Locus
Μutation in RIPK4 causes the autosomal recessive form of the Bartsocas-Papas syndrome.[4][5]
Symptoms
Bartsocas-Papas syndrome is a very rare (approximately 1 in 1 million births) multiple malformation hereditary entity characterized by congenital craniofacial anomalies, popliteal webbing, and genitourinary and musculoskeletal anomalies.[1][6]
Causations
Bartsocas-Papas syndrome is caused by genetic mutations.[6][7]
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References
- ^ a b "Orphanet: Bartsocas-Papas syndrome". www.orpha.net. Retrieved 2024-11-25.
- ^ a b Bartsocas, C S; Papas, C V (1972-06-01). "Popliteal pterygium syndrome. Evidence for a severe autosomal recessive form". Journal of Medical Genetics. 9 (2): 222–226. doi:10.1136/jmg.9.2.222. ISSN 1468-6244. PMC 1469049. PMID 4339984.
- ^ Papadia, Francesco; Zimbalatti, F.; La Rosa, C. Gentile (April 1984). "The Bartsocas‐Papas syndrome: Autosomal recessive form of popliteal pterygium syndrome in a male infant". American Journal of Medical Genetics. 17 (4): 841–847. doi:10.1002/ajmg.1320170414. ISSN 0148-7299.
- ^ Mitchell, Karen; O'Sullivan, James; Missero, Caterina; Blair, Ed; Richardson, Rose; Anderson, Beverley; Antonini, Dario; Murray, Jeffrey; Shanske, Alan; Schutte, Brian; Romano, Rose-Anne; Sinha, Satrajit; Bhaskar, Sanjeev; Black, Graeme; Dixon, Jill (2012-01-13). "Exome Sequence Identifies RIPK4 as the Bartsocas-Papas Syndrome Locus". The American Journal of Human Genetics. 90 (1): 69–75. doi:10.1016/j.ajhg.2011.11.013. ISSN 0002-9297.
- ^ Kalay, Ersan; Sezgin, Orhan; Chellappa, Vasant; Mutlu, Mehmet; Morsy, Heba; Kayserili, Hulya; Kreiger, Elmar; Cansu, Aysegul; Toraman, Bayram; Abdalla, Ebtesam; Aslan, Yakup; Pillai, Shiv; Akarsu, Nurten (2012-01-13). "Mutations in RIPK4 Cause the Autosomal-Recessive Form of Popliteal Pterygium Syndrome". The American Journal of Human Genetics. 90 (1): 76–85. doi:10.1016/j.ajhg.2011.11.014. ISSN 0002-9297.
- ^ a b "Bartsocas-Papas syndrome | About the Disease | GARD". rarediseases.info.nih.gov. Archived from the original on September 23, 2023. Retrieved 2024-11-25.
- ^ Gollasch, Benjamin; Basmanav, Fitnat Buket; Nanda, Arti; Fritz, Günter; Mahmoudi, Hassnaa; Thiele, Holger; Wehner, Maria; Wolf, Sabrina; Altmüller, Janine; Nürnberg, Peter; Frank, Jorge; Betz, Regina C. (November 2015). "Identification of a novel mutation in RIPK4 in a kindred with phenotypic features of Bartsocas‐Papas and CHAND syndromes". American Journal of Medical Genetics Part A. 167 (11): 2555–2562. doi:10.1002/ajmg.a.37233. ISSN 1552-4825.