Aase-Smith syndrome
MONDO:0007839Aase-Smith syndrome type I is a very rare genetic disorder characterized by the following congenital malformations: hydrocephalus (due to Dandy-Walker anomaly), cleft palate, and severe joint contractures.
Also known as: Aase-Smith I syndrome, Aase-Smith syndrome, Aase-Smith syndrome type 1, hydrocephalus-cleft palate-joint contractures syndrome, Aase-Smith syndrome 1, Aase-Smith syndrome I, Joint contractures with Other abnormalities
5 clinical trials for this condition and its sub-types.
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Massive data collection launched for brain surgery patients
Knowledge-focused Recruiting nowThis study is gathering medical information and samples from up to 5,000 people with neurosurgical conditions like brain tumors, epilepsy, and Parkinson's disease. Participants receive standard care while their data is collected for future research. No new treatments are being te…
Sponsor: National Institute of Neurological Disorders and Stroke (NINDS) • Aim: Knowledge-focused
Last updated Jun 27, 2026 14:00 UTC
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Scientists map DNA 'Signatures' in rare fetal diseases
Knowledge-focused Recruiting nowThis study looks at DNA methylation patterns (chemical tags on DNA) in fetuses with rare genetic diseases. Researchers will analyze DNA from amniotic fluid and tissue samples to create reference signatures. The goal is to improve diagnosis of these conditions before birth. The st…
Sponsor: Assistance Publique - Hôpitaux de Paris • Aim: Knowledge-focused
Last updated Jun 27, 2026 12:01 UTC
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Gene tests for sick newborns: a lifesaver in the NICU?
Knowledge-focused Recruiting nowThis study is testing whether using rapid genetic sequencing can help doctors diagnose and treat birth defects in newborns in intensive care. Researchers will enroll 2,000 babies and compare death rates, disability rates, and genetic findings. The goal is to see if personalized t…
Sponsor: Children's Hospital of Fudan University • Aim: Knowledge-focused
Last updated Jun 26, 2026 13:36 UTC