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.

Failure to thrive

Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm.


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PMID (PMCID)
10893662
 MIXED_SAMPLE Infant, Newborn
Marden-Walker syndrome: case report, nosologic discussion and aspects of counseling.
Garavelli L, Donadio A, Banchini G, Magnani C, Magnani C, Calzolari E, Fryns JP.
Genet Couns. 2000;11(2):111-8.
The Marden-Walker syndrome is characterized by a mask-like face with blepharophimosis, micrognathia, cleft or high-arched palate, low-set ears, congenital joint contractures, decreased muscular mass, failure to thrive and psychomotor retardation.
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.