Cerebellar-facial-dental syndrome

MONDO:0014529

A syndrome that is characterized by delayed development, intellectual disability, abnormal facial and dental findings, and cerebellar hypoplasia and that has material basis in homozygous or compound heterozygous mutation in the BRF1 gene on chromosome 14q32.

Also known as: Cerebellofaciodental syndrome, cerebellar-facial-dental syndrome, CEREBELLOFACIODENTAL syndrome, CFDS

1 clinical trial for this condition and its sub-types, 0 tagged with Cerebellar-facial-dental syndrome itself.

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Where it sits in the disease tree

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↑ Hereditary neurological disease (5791) ↑ Congenital nervous system disorder (287) ↑ Multiple congenital anomalies/dysmorphic syndrome-intellectual disability (59) ↑ Central nervous system malformation (51)

Including sub-types (1) Tagged with Cerebellar-facial-dental 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

Cerebellar-facial-dental syndrome

Where it sits in the disease tree

Massive data collection launched for brain surgery patients