Lethal congenital contracture syndrome 1
MONDO:0009670Lethal congenital contracture syndrome type 1 is a rare, genetic arthrogryposis syndrome characterized by total fetal akinesia (detectable since the 13th week of gestation) accompanied by hydrops, micrognathia, pulmonary hypoplasia, pterygia and multiple joint contractures (usually flexion contractures in the elbows and extension in the knees), leading invariably to death before the 32nd week of gestation. Lack of anterior horn motoneurons, severe atrophy of the ventral spinal cord and severe skeletal muscle hypoplasia are characteristic neuropathological findings, with no evidence of other organ structural anomalies.
Also known as: GLE1 lethal congenital contracture syndrome, Herva disease, LCCS1, lethal congenital contracture syndrome 1, lethal congenital contracture syndrome caused by mutation in GLE1, lethal congenital contracture syndrome type 1, multiple contracture syndrome, Finnish type, Lccs
10 clinical trials for this condition and its sub-types.
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Could a tiny dose of muscle relaxant make lung scopes safer?
Symptom relief CompletedThis study looked at whether giving a low dose of a muscle relaxant (rocuronium) during bronchoscopy—a procedure where a tube is inserted into the lungs—could reduce complications like throat spasms and coughing. 153 adults having elective bronchoscopy were split into two groups:…
Phase: NA • Sponsor: Harbin Medical University • Aim: Symptom relief
Last updated Jun 27, 2026 09:09 UTC
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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