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

A rare disorder 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.

Short distal phalanx of finger

Short distance from the end of the finger to the most distal interphalangeal crease or the distal interphalangeal joint flexion point. That is, hypoplasia of one or more of the distal phalanx of finger.


Total: 0

                      


(per page)
PMID (PMCID)