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Marden-Walker syndrome
rareMarden-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.
- Identifiers
- MONDO:0009564 OMIM:248700Orphanet:2461
- Causal genes
- PIEZO2
- Part of
- Arthrogryposis multiplex congenitaCiliopathyMultiple congenital anomalies/dysmorphic syndrome-intellectual disability
- Also known as
- connective tissue disorder Marden Walker type · Marden Walker Syndrome · MWKS
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