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.

Blepharophimosis

A fixed reduction in the vertical distance between the upper and lower eyelids with short palpebral fissures.


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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.
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.
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.
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.
3047662
 FEMALE Infant, Newborn
[Marden-Walker syndrome. New case and discussion about its role in arthrogryposes].
Manouvrier-Hanu S, de la Chapelle AC, Farriaux JP.
Pediatrie. 1988;43(4):313-7.
The Marden-Walker syndrome is a rare entity associating neonatal arthrogryposis and blepharophimosis with autosomal recessive inheritance.
4009704
 FEMALE Adult
The Marden-Walker syndrome: a case report and review of the literature.
Jancar J, Mlele TJ.
J Ment Defic Res. 1985;29 ( Pt 1):63-70.
A case of Marden-Walker syndrome with its typical facies, blepharophimosis, congenital joint contractures, mental handicap and other anomalies is reported in a 29-year-old female and the literature reviewed.