Marden-Walker syndrome

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.

Intellectual disability

Subnormal intellectual functioning which originates during the developmental period. Intellectual disability, previously referred to as mental retardation, has been defined as an IQ score below 70.

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PMID (PMCID)
23894067	FEMALE	Child
	A 2.84 Mb deletion at 21q22.11 in a patient clinically diagnosed with Marden-Walker syndrome.
	Carrascosa-Romero MC, Suela J, Pardal-Fernandez JM, Bermejo-Sanchez E, Vidal-Company A, MacDonald A, Tebar-Gil R, Martinez-Fernandez ML, Martinez-Frias ML. Am J Med Genet A. 2013;161A(9):2281-90.
	We present a girl with the characteristic clinical picture associated with Marden-Walker syndrome (MWS; OMIM 248700), including mask-like face with blepharophimosis, joint contractures, intellectual disability, a multicystic dysplastic kidney and cerebral dysgenesis.