Marden-Walker Syndrome (MWKS)

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OMIM®: ⁵⁷ Marden-Walker syndrome is characterized by psychomotor retardation, a mask-like face with blepharophimosis, micrognathia and a high-arched or cleft palate, low-set ears, kyphoscoliosis, and joint contractures. Other features may include Dandy-Walker malformation with hydrocephalus and vertebral abnormalities (summary by Schrander-Stumpel et al., 1993). There are 2 distal arthrogryposis syndromes with features overlapping those of Marden-Walker syndrome that are also caused by heterozygous mutation in PIEZO2: distal arthrogryposis type 3 (DA3, or Gordon syndrome; 114300) and distal arthrogryposis type 5 (DA5; 108145), which are distinguished by the presence of cleft palate and ocular abnormalities, respectively. McMillin et al. (2014) suggested that the 3 disorders may represent variable expressivity of the same condition. (248700) (Updated 08-Dec-2022)

MalaCards based summary: Marden-Walker Syndrome, also known as mws, is related to muckle-wells syndrome and mowat-wilson syndrome, and has symptoms including seizures An important gene associated with Marden-Walker Syndrome is PIEZO2 (Piezo Type Mechanosensitive Ion Channel Component 2). Affiliated tissues include bone, eye and skeletal muscle, and related phenotypes are intellectual disability and failure to thrive

GARD: ¹⁹ Marden-Walker syndrome (MWS) is a genetic condition affecting the connective tissue. Features may include distinctive facial features, a cleft or high-arched palate, a small or receding jaw (micrognathia), fixed bone joints (contractures or arthrogryposis), and growth delay. Other symptoms may include a mask-like face with a narrowing of the eye opening (blepharophimosis), low-set ears, failure to thrive, and a generalized slowing down of physical reactions, movements, and speech. The cause of MWS is unknown. A few individuals have been found to have a PIEZO2 gene that is not working correctly. It is likely inherited in an autosomal recessive pattern. This condition is diagnosed by a clinical exam and other medical tests.

UniProtKB/Swiss-Prot: ⁷³ 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.

Orphanet: ⁵⁸ A rare developmental defect during embryogenesis 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.

Wikipedia: ⁷⁵ Marden-Walker syndrome (MWS) is a rare autosomal recessive congenital disorder. It is characterized by... more...

Clinical features from OMIM®:

Search Clinical Trials, NIH Clinical Center for Marden-Walker Syndrome