Purpose: Interferon regulatory factor 6 encodes a member of the IRF family of transcription factors. Mutations in interferon regulatory factor 6 cause Van der Woude and popliteal pterygium ...

Popliteal pterygium syndrome (PPS) is the most severe form of IRF6. PPS patients typically have cleft lip or cleft palate, as well as skin and limb deformities.

Shine spent three weeks in the UC Davis NICU and was diagnosed with a combination of two extremely rare genetic conditions, Popliteal Pterygium Syndrome (PPS), Bartsocas-Papas type, and Ectodermal ...

Two patients with pterygium had soft tissue releases in conjunction with distraction. The fixators were in place for an average of 17.1 weeks (range, 12 to 30 weeks). Average follow-up to date is ...

Born with popliteal pterygium syndrome, a rare condition in which the webbing of the skin limits mobility, Garcia-Tolson endured 15 surgeries before having his legs amputated above the knee at age 5.

Both have a rare genetic condition-popliteal pterygium syndrome. There was a 50% chance Shawn would pass it on to her children; her two older children don't have the condition.

Kenley was born with Popliteal Pterygium Syndrome. Her eyelids, fingers and toes all had webbing, but the worst of it was on her legs. Eventually, doctors opted to amputate both legs.

Alyssia Crook, now 15 and in Rochester this week for the National Junior Disability Championships, has a rare genetic disease called popliteal pterygium syndrome. It affects fewer than 1 in 10,000 ...