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.

Arachnodactyly

Abnormally long and slender fingers (\"spider fingers\").


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PMID (PMCID)
23162309
(3491307)
 OTHER
Unusual manifestation of Marden-Walker syndrome.
Taksande AM, Vilhekar KY.
Indian J Hum Genet. 2012;18(2):256-8.
Marden-Walker syndrome (MWS) is characterized by multiple joint contractures, a mask-like face with blepharophimosis, micrognathia, high-arched or cleft palate, low-set ears, decreased muscular bulk, arachnodactyly, and kyphoscoliosis.
12673658
 MALE Child
van den Ende-Gupta syndrome of blepharophimosis, arachnodactyly, and congenital contractures: clinical delineation and recurrence in brothers.
Schweitzer DN, Lachman RS, Pressman BD, Graham JM Jr.
Am J Med Genet A. 2003;118A(3):267-73.
It is important to distinguish VDEGS from Marden-Walker syndrome (MWS) since both syndromes include blepharophimosis, arachnodactyly, and congenital contractures.
7677143
 FEMALE
Renal anomalies in Marden-Walker syndrome: a clue for prenatal diagnosis.
Ben-Neriah Z, Yagel S, Ariel I.
Am J Med Genet. 1995;57(3):417-9.
Marden-Walker syndrome is an autosomal-recessive disorder characterized by psychomotor retardation, blepharophimosis, joint contractures, arachnodactyly, failure to thrive, and, infrequently, renal anomalies.
1227520
 MALE
Probable Marden-Walker syndrome: evidence for autosomal recessive inheritance.
Temtamy SA, Shoukry AS, Raafat M, Mihareb S.
Birth Defects Orig Artic Ser. 1975;11(2):104-8.
Main features of the Marden-Walker syndrome are failure to thrive, marked motor and mental retardation, and multiple malformations in the form of peculiar facies associated wilth poor muscle mass, mild congenital joint contractures, pigeon breast, kyphoscoliosis and arachnodactyly.