Holoprosencephaly-caudal dysgenesis syndrome

MONDO:0016299

A central nervous system malformation syndrome characterized by holoprosencephaly with microcephaly, abnormal eye morphology (hypotelorism, cyclopia, exophthalmos), nasal anomalies (single nostril or absent nose), and cleft lip/palate, combined with signs of caudal regression (sacral agenesis, sirenomelia with absent external genitalia).

1 clinical trial for this condition and its sub-types, 0 tagged with Holoprosencephaly-caudal dysgenesis syndrome itself.

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↑ Central nervous system malformation (51)

Including sub-types (1) Tagged with Holoprosencephaly-caudal dysgenesis syndrome (0)

Trials to join now! 1

Massive data collection launched for brain surgery patients

Knowledge-focused Recruiting now

This 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 Aug 20, 2026 00:00 UTC

Holoprosencephaly-caudal dysgenesis syndrome

Where it sits in the disease tree

Massive data collection launched for brain surgery patients