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]
Disease definition
According to the Genetic and Rare Diseases Research Center:[4]
Bartsocas–Papas syndrome is a rare, inherited, popliteal pterygium syndrome characterized by severe popliteal webbing, microcephaly, atypical face with short palpebral fissures, ankyloblepharon, hypoplasticnose, filiform bands between the jaws and facial clefts, oligosyndactyly, genital anomalies, and additional ectodermal anomalies (i.e. absent hair, eyebrows, lashes and nails).
Locus
Μutations in RIPK4 cause the autosomal recessive form of the Bartsocas–Papas syndrome.[5][6]
See also
References
- ^ "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.
- ^ "Bartsocas-papas syndrome 1 | About the Disease | GARD". rarediseases.info.nih.gov. Retrieved 2025-11-16.
- ^ 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. PMC 3257895.