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Contractures, pterygia, and variable skeletal fusions syndrome

MONDO:0020937

2 clinical trials for this condition and its sub-types.

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Sub-types

Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A (1) Contractures, pterygia, and variable skeletal fusions syndrome 1B (0)

Broader categories

Disease (717) Hereditary disease (188) Human disease (15) Developmental defect during embryogenesis (8) Congenital limb malformation (3) Disease of genetic or genomic mechanism (2) Arthrogryposis syndrome (0) Disease by developmental or physiological process (0) Disease by etiologic mechanism (0) Disorder of development or morphogenesis (0)
Trials to join now! 1 Completed 1
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    This study is building a global database of 1000 people with homozygous familial hypercholesterolemia (HoFH), a rare inherited condition causing extremely high cholesterol from birth. Researchers are gathering de-identified medical data from clinics around the world to better und…

    Sponsor: University of Pennsylvania • Aim: Knowledge-focused

    Last updated Jun 27, 2026 08:05 UTC

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