Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome

MONDO:0009074

Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome is characterized by Dandy-Walker malformation, severe intellectual deficit, macrocephaly, brachytelephalangy, facial dysmorphism and severe myopia. Three cases have been described. Transmission appears to be autosomal recessive.

Also known as: Dandy-Walker malformation with intellectual disability, macrocephaly, myopia, and BRACHYTELEPHALANGY, Dandy-Walker malformation with mental retardation, macrocephaly, myopia, and BRACHYTELEPHALANGY

1 clinical trial for this condition and its sub-types, 0 tagged with Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome itself.

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

Including sub-types (1) Tagged with Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation 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

Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome

Where it sits in the disease tree

Massive data collection launched for brain surgery patients