From HPO
Dandy-Walker syndrome- MedGen UID:
- 4150
- •Concept ID:
- C0010964
- •
- Disease or Syndrome
Dandy-Walker malformation is defined by hypoplasia and upward rotation of the cerebellar vermis and cystic dilation of the fourth ventricle. Affected individuals often have motor deficits such as delayed motor development, hypotonia, and ataxia; about half have mental retardation and some have hydrocephalus. DWM is a heterogeneous disorder. The low empiric recurrence risk of approximately 1 to 2% for nonsyndromic DWM suggests that mendelian inheritance is unlikely (summary by Murray et al., 1985).
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.
- Abnormality of the musculoskeletal system