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Marden-Walker syndrome

Disease Summary
Associated Targets (1)
Tbio

1


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Mondo Description Marden-Walker syndrome (MWS) is a malformation syndrome characterized by multiple joint contractures (arthrogryposis), a mask-like face with blepharophimosis, micrognathia, high-arched or cleft palate, low-set ears, decreased muscular bulk, kyphoscoliosis and arachnodactyly.
Uniprot Description A syndrome characterized by a mask-like face with blepharophimosis, micrognathia, cleft or high-arched palate, low-set ears, congenital joint contractures, kyphoscoliosis, pectus excavatum or carinatum, and arachnodactyly. Additional features include decreased muscular mass, failure to thrive, renal anomalies, hypoplastic corpus callosum, cerebellar vermis hypoplasia, enlarged cisterna magna, and psychomotor retardation.
Mondo Term and Equivalent IDs
MONDO:0009564:  Marden-Walker syndrome
GARD:0006973: 
MESH:C535910: 
Orphanet:2461: 
SCTID:449824004: 
GWAS Targets (0)
No GWAS traits found
Disease Hierarchy
Target Novelty (Tin-x)
No novelty measurements found