/facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome

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

Rare Disease

MONDO:0009074

Also Known As

Dandy-Walker malformation with intellectual disability, macrocephaly, myopia, and BRACHYTELEPHALANGYDandy-Walker malformation with mental retardation, macrocephaly, myopia, and BRACHYTELEPHALANGY

Definition

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.