Dandy-Walker Syndrome malady
Categories: Genetic diseases, Neuronal diseases, Fetal diseases, Rare diseases
Aliases & Descriptions for Dandy-Walker Syndrome:
Orphanet epidemiological data:52
isolated dandy-walker malformation:
Inheritance: Multigenic/multifactorial; Prevalence: 1-9/100000 (Europe); Age of onset: Antenatal,Neonatal
Global: Genetic diseases, Fetal diseases, Rare diseases
Anatomical: Neuronal diseases
ICD10: 29 28
NINDS:47 Dandy-Walker Syndrome is a congenital brain malformation involving the cerebellum (an area of the back of the brain that coordinates movement) and the fluid-filled spaces around it. The key features of this syndrome are an enlargement of the fourth ventricle (a small channel that allows fluid to flow freely between the upper and lower areas of the brain and spinal cord), a partial or complete absence of the area of the brain between the two cerebellar hemispheres (cerebellar vermis), and cyst formation near the lowest part of the skull. An increase in the size and pressure of the fluid spaces surrounding the brain (hydrocephalus) may also be present. The syndrome can appear dramatically or develop unnoticed. Symptoms, which often occur in early infancy, include slow motor development and progressive enlargement of the skull. In older children, symptoms of increased intracranial pressure (pressure within the skull) such as irritability and vomiting, and signs of cerebellar dysfunction such as unsteadiness, lack of muscle coordination, or jerky movements of the eyes may occur. Other symptoms include increased head circumference, bulging at the back of the skull, abnormal breathing problems, and problems with the nerves that control the eyes, face and neck. Dandy-Walker Syndrome is sometimes associated with disorders of other areas of the central nervous system, including absence of the area made up of nerve fibers connecting the two cerebral hemispheres (corpus callosum) and malformations of the heart, face, limbs, fingers and toes.
MalaCards based summary: Dandy-Walker Syndrome, also known as dandy-walker malformation, is related to dandy-walker malformation with intellectual disability, basal ganglia disease and seizures and dandy-walker malformation with postaxial polydactyly, and has symptoms including prominent occiput, dandy-walker malformation and abnormality of the vertebrae. An important gene associated with Dandy-Walker Syndrome is DWS (Dandy-Walker Syndrome). Affiliated tissues include brain, cerebellum and heart.
Disease Ontology:11 A cerebellar disease that is characterized by hypoplasia and upward rotation of the cerebellar vermis and cystic dilation of the fourth ventricle.
Genetics Home Reference:24 Dandy-Walker malformation affects brain development, primarily development of the cerebellum, which is the part of the brain that coordinates movement. In individuals with this condition, various parts of the cerebellum develop abnormally, resulting in malformations that can be observed with medical imaging. The central part of the cerebellum (the vermis) is absent or very small and may be abnormally positioned. The right and left sides of the cerebellum may be small as well. In affected individuals, a fluid-filled cavity between the brainstem and the cerebellum (the fourth ventricle) and the part of the skull that contains the cerebellum and the brainstem (the posterior fossa) are abnormally large. These abnormalities often result in problems with movement, coordination, intellect, mood, and other neurological functions.
OMIM:50 Dandy-Walker malformation is defined by hypoplasia and upward rotation of the cerebellar vermis and cystic dilation of... (220200) more...
Wikipedia:69 Dandy–Walker syndrome (DWS) is a rare group of congenital human brain malformations. There are three... more...
Symptoms by clinical synopsis from OMIM:220200
Clinical features from OMIM:220200
Symptoms:52 (show all 9)
HPO human phenotypes related to Dandy-Walker Syndrome:(show all 19)
UMLS symptoms related to Dandy-Walker Syndrome:cerebellar ataxia
Interventional clinical trials:
Search NIH Clinical Center for Dandy-Walker Syndrome
MalaCards organs/tissues related to Dandy-Walker Syndrome:34
Brain, Cerebellum, Heart, Spinal cord, Eye, Bone, Breast
Articles related to Dandy-Walker Syndrome:(show top 50) (show all 153)
Search GEO for disease gene expression data for Dandy-Walker Syndrome.
29ICD10 via Orphanet
38MESH via Orphanet
51OMIM via Orphanet
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
67UMLS via Orphanet