Bartsocas-Papas syndrome 1
MONDO:0009901A rare, inherited, popliteal pterygium syndrome characterized by severe popliteal webbing, microcephaly, a typical face with short palpebral fissures, ankyloblepharon, hypoplastic nose, filiform bands between the jaws and facial clefts, oligosyndactyly, genital abnormalities, and additional ectodermal anomalies (i.e. absent hair, eyebrows, lashes, nails). It is often fatal in the neonatal period, but patients living until childhood have been reported.
Also known as: Bartsocas Papas syndrome, Bartsocas-Papas syndrome, autosomal recessive popliteal pterygium syndrome, lethal popliteal pterygium syndrome, popliteal pterygium syndrome, Bartsocas-Papas type 1, popliteal pterygium syndrome, lethal type, BPS, multiple pterygium syndrome, Aslan type
12 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
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AI could cut skin specialist wait times, study hints
Knowledge-focused CompletedThis study tested an artificial intelligence algorithm designed to help primary care doctors decide whether a patient with a skin condition really needs to see a dermatologist. Researchers enrolled 200 adults with skin problems and had their doctors take photos of the affected ar…
Sponsor: AI Labs Group S.L • Aim: Knowledge-focused
Last updated Jun 27, 2026 08:11 UTC