Bartsocas-Papas syndrome (OMIM: 263650 and ORPHA:1234) is a form of popliteal pterygium syndrome, more specifically an autosomal recessive popliteal pterygium syndrome.[1] It was first described by Dr. Christos Bartsocas.
Symptoms
editBartsocas-Papas syndrome is a very rare disease characterized by congenital craniofacial anomalies, popliteal webbing, and genitourinary and musculoskeletal anomalies.[1][2]
Causations
editBartsocas-Papas syndrome is caused by genetic mutations.[2] 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 any of these.[2]
References
edit- ^ a b "Orphanet: Bartsocas-Papas syndrome". www.orpha.net. Retrieved 2024-11-25.
- ^ a b c "Bartsocas-Papas syndrome | About the Disease | GARD". rarediseases.info.nih.gov. Retrieved 2024-11-25.