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.

Low-set ears

Upper insertion of the ear to the scalp below an imaginary horizontal line drawn between the inner canthi of the eye and extending posteriorly to the ear.


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(per page)
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.
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.
8370150
 MALE Infant, Newborn
Marden-Walker syndrome: case report, literature review and nosologic discussion.
Schrander-Stumpel C, de Die-Smulders C, de Krom M, Schyns-Fleuran S, Hamel B, Jaeken D, Fryns JP.
Clin Genet. 1993;43(6):303-8.
The 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.