Kabuki syndrome
MONDO:0016512Kabuki syndrome (KS) is a multiple congenital anomaly syndrome characterized by typical facial features, skeletal anomalies, mild to moderate intellectual disability and postnatal growth deficiency.
Also known as: KMS, Kabuki make-up syndrome, Niikawa-Kuroki syndrome, NKS
2 clinical trials for this condition and its sub-types, 2 tagged with Kabuki syndrome itself.
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Sub-types of Kabuki syndrome
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Kabuki syndrome 1 0 trials
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Kabuki syndrome 2 0 trials
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New study tackles diagnostic maze for rare developmental disorders
Knowledge-focused Recruiting nowThis study looks at how to reduce the long and frustrating journey to a diagnosis for people with developmental abnormalities. Researchers will review past cases, collect new blood or skin samples, and use advanced genetic testing. The goal is to understand why some people remain…
Sponsor: Centre Hospitalier Universitaire Dijon • 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