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

• Popliteal pterygium syndrome
• Autosomal recessive
• RIPK4

Dr. Christos S. Bartsocas, who first described the syndrome.

Dr. Costas V. Papas

References

1. "Orphanet: Bartsocas-Papas syndrome". www.orpha.net. Retrieved 2024-11-25.
2. 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.
3. 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.
4. "Bartsocas-papas syndrome 1 | About the Disease | GARD". rarediseases.info.nih.gov. Retrieved 2025-11-16.
5. 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.
6. 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 .