From HPO
Macrocephaly at birth- MedGen UID:
- 322956
- •Concept ID:
- C1836599
- •
- Finding
The presence of an abnormally large skull with onset at birth.
Atretic occipital cephalocele- MedGen UID:
- 332248
- •Concept ID:
- C1836600
- •
- Finding
A congenital defect in the occipital region of the skull, covered by skin of the scalp and containing meninges or remnants of glial or neural tissues.
Dandy-Walker malformation- MedGen UID:
- 419183
- •Concept ID:
- C2931867
- •
- Congenital Abnormality
A congenital brain malformation typically characterized by incomplete formation of the cerebellar vermis, dilation of the fourth ventricle, and enlargement of the posterior fossa. In layman's terms, Dandy Walker malformation is a cyst in the cerebellum (typically symmetrical) that is involved with the fourth ventricle. This may interfere with the ability to drain cerebrospinal fluid from the brain, resulting in hydrocephalus. Dandy Walker cysts are formed during early embryonic development, while the brain forms. The cyst in the cerebellum typically has several blood vessels running through it connecting to the brain, thereby prohibiting surgical removal.
- Abnormality of the musculoskeletal system