Autosomal dominant popliteal pterygium syndrome
MONDO:0007334Autosomal dominant popliteal pterygium syndrome (AD-PPS) is a rare genetic malformative disorder characterized by cleft lip, with or without cleft palate, contractures of the lower extremities, abnormal external genitalia, syndactyly of fingers and/or toes, and a pyramidal skin fold over the hallux nail.
Also known as: facio-genito-popliteal syndrome, popliteal pterygium syndrome 1, popliteal pterygium syndrome, autosomal dominant, popliteal web syndrome, PPS, cleft Lip/palate, paramedian mucous cysts of the Lower Lip, popliteal pterygium, digital and genital anomalies, cleft lip/palate paramedian mucous cysts of the lower lip popliteal pterygium digital and genital anomalies, faciogenitopopliteal syndrome
5 clinical trials for this condition and its sub-types.
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Kids test new bionic foot design
Knowledge-focused CompletedThis study tested a new prosthetic foot for children with leg amputations or birth defects. Thirteen kids walked with the device and gave feedback on stiffness and performance. The goal was to gather ideas to improve future foot designs.
Sponsor: Össur Iceland ehf • Aim: Knowledge-focused
Last updated Jun 27, 2026 14:00 UTC
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Gene sequencing uncovers mysterious fetal malformations
Knowledge-focused CompletedThis study tested whether a powerful DNA test called high-throughput exome sequencing can find genetic causes of multiple birth defects in fetuses when standard exams fail. Researchers studied 100 fetuses with at least two malformations and no prior diagnosis. They compared the n…
Sponsor: Centre Hospitalier Universitaire Dijon • Aim: Knowledge-focused
Last updated Jun 27, 2026 09:03 UTC
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Speedy gene test aims to give answers on birth defects in just 7 days
Knowledge-focused CompletedThis study tested whether a fast type of genetic test called rapid genome sequencing can find the cause of birth defects seen on ultrasound more quickly than current methods. Researchers included 184 pregnancies with certain ultrasound findings. The goal was to see if results cou…
Sponsor: Centre Hospitalier Universitaire Dijon • Aim: Knowledge-focused
Last updated Jun 27, 2026 09:00 UTC