Bartsocas-Papas syndrome explained

Synonyms:	Autosomal recessive popliteal pterygium syndrome, Lethal popliteal pterygium syndrome

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.^{[1] [2]}

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.

Further reading

• Josh . Fonny . Soekamto . Tomie Hermawan . Marzoeki . Djohansjah . Faruk . Muhammad . Bartsocas-Papas syndrome: The first case report of severe autosomal recessive form from Indonesia . International Journal of Surgery Case Reports . 79 . 2021 . 33529824 . 7851448 . 10.1016/j.ijscr.2021.01.070 . free . 436–439 . none .
• Nikhat . Fareeda . Fernandes . Shalini Dolly . Mashharawi . Nabilah . Bahutair . Shadha . Bartsocas-Papas Syndrome: Case Report . Dubai Medical Journal . 5 . 2 . 2022-01-05 . 2571-726X . 10.1159/000520991 . free . 125–128 . none .

External links

• Web site: Bartsocas-Papas syndrome . UniProt . none . 2024-12-02.

Notes and References

1. Web site: Orphanet: Bartsocas-Papas syndrome . 2024-11-25 . www.orpha.net.
2. Web site: Bartsocas-Papas syndrome About the Disease GARD . 2024-11-25 . rarediseases.info.nih.gov . en.