Marden-Walker Syndrome
What is Marden-Walker Syndrome?
Marden-Walker Syndrome (MWS) is a rare congenital disorder characterized by a distinct combination of facial abnormalities, stiff joints that reduce motion (arthrogryposis), developmental delays, and abnormalities of the central nervous system. Infants with MWS are typically born with stiff joints that limit movement and a distinct facial appearance, often accompanied by profound intellectual disability. The characteristic facial features include abnormal and stiff jaw, droopy eyelids, flat bridged nose, low-set ears, and inability to move facial muscles. Other bodily features include a curved spine or “hunched” stature, small head circumference, cleft or high-arched palate, and joints that are bent without the ability to move or straighten them (arthrogryposis). It is a multisystem disorder evident at birth and, unfortunately, typically associated with severe morbidity.
Synonyms
- Marden-Walker dysmorphic syndrome
- Arthrogryposis with distinctive facial features and central nervous system involvement
- Connective tissue disorder, Marden-Walker type
Marden-Walker Syndrome (MWS) is a rare congenital disorder characterized by a distinct combination of facial abnormalities, stiff joints that reduce motion (arthrogryposis), developmental delays, and abnormalities of the central nervous system. Infants with MWS are typically born with stiff joints that limit movement and a distinct facial appearance, often accompanied by profound intellectual disability. The characteristic facial features include abnormal and stiff jaw, droopy eyelids, flat bridged nose, low-set ears, and inability to move facial muscles. Other bodily features include a curved spine or “hunched” stature, small head circumference, cleft or high-arched palate, and joints that are bent without the ability to move or straighten them (arthrogryposis). It is a multisystem disorder evident at birth and, unfortunately, typically associated with severe morbidity.
Marden-Walker Syndrome is extremely rare, with fewer than 50 cases reported in the medical literature to date. Due to its rarity, the exact prevalence is unknown. It affects children born genetically male more than female at a rate of 11 to 3, and has been identified in various ethnic populations.
| Name | Abbreviation |
|---|---|
| Marden-Walker dysmorphic syndrome | |
| Arthrogryposis with distinctive facial features and central nervous system involvement | |
| Connective tissue disorder, Marden-Walker type |
The exact genetic cause of MWS is not fully understood, but it is suspected to follow an autosomal recessive inheritance pattern (see RareShare Guide on Genetic Inheritance). This means that an affected child inherits two copies of the defective gene, one from each parent. Some studies have suggested possible involvement of mutations in genes associated with muscle and connective tissue development, though no single causative gene has been definitively identified. Parental consanguinity (parents being related) has been reported in several cases, supporting a recessive inheritance model. While the exact genetic cause is still unknown, researchers predict that a single genetic mutation responsible for proper development of the central nervous system may cause MWS.
Marden-Walker Syndrome is characterized by a constellation of physical and neurological features that may include:
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Craniofacial abnormalities: Micrognathia (small jaw), cleft or high-arched palate, long philtrum, low-set ears, and mask-like facial expression (inability to move joints in the face)
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Arthrogryposis: Congenital joint contractures (stiff joints held bent with inability to straighten) affecting multiple joints, particularly in the limbs
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Hypotonia (low muscle tone) and poor motor coordination
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Severe developmental delay and intellectual disability
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Growth retardation: Poor weight gain and short stature
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Central nervous system (CNS) abnormalities: Including failure for organs to grow or develop during embryonic development (agenesis), hypoplasia of the corpus callosum (when the brain structure between the two hemispheres is too thin), cerebellar hypoplasia (cerebellum part of the brain responsible for coordination and balance is smaller and underdeveloped), and ventriculomegaly (fluid-filled spaces in the brain are abnormally large)
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Feeding difficulties and respiratory problems due to hypotonia and facial abnormalities
Congenital heart defects and genitourinary anomalies in some cases
Diagnosis is made based on the presence of characteristic clinical features in a newborn or infant, often in combination with imaging findings of brain malformations and joint abnormalities. A detailed family history and physical examination help support the diagnosis.
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Physical examination: Identifies typical facial and musculoskeletal features
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Brain imaging (MRI or CT scan): May reveal cerebellar hypoplasia, corpus callosum agenesis, or other structural abnormalities
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Echocardiography: To assess for congenital heart defects
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Genetic testing: While no specific gene is definitively associated, exome or genome sequencing may help rule out other syndromes and could potentially identify candidate mutations
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Electromyography (EMG) or muscle biopsy: Sometimes used to evaluate associated muscle abnormalities
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Developmental assessments: To evaluate the extent of cognitive and motor delays
There is no cure for Marden-Walker Syndrome. Treatment is supportive and symptom-based, often involving a multidisciplinary team:
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Physical and occupational therapy to improve joint mobility and muscle strength
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Speech and feeding therapy for communication and nutritional support
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Surgical interventions to correct joint contractures, cleft palate, or other structural anomalies
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Special education services and individualized developmental programs
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Management of complications such as respiratory distress, seizures, or heart defects
The prognosis for Marden-Walker Syndrome is generally poor. Most affected individuals experience severe developmental impairment and may be nonverbal and nonambulatory (unable to move or walk unassisted). Life expectancy is significantly reduced, often due to respiratory complications, heart conditions, feeding difficulties, or infections in early childhood. However, supportive care can improve comfort, reduce complications, and help families optimize the child's quality of life. Early diagnosis and coordinated care are essential to address the many challenges posed by this complex syndrome.
Last updated 8 Jan 2013, 03:16 PM
8 Jan 2013, 03:16 PM
why would anyone outside writing.My daughter was diagnosed MWS What awaits us in
Last updated 7 Nov 2009, 01:14 AM
7 Nov 2009, 01:14 AM
hi there im chris i was born with marden walker syndrome to how does it affect everyone else. i developed kidney failure and sleep appnea and undescended testes i also had hypersplasia ( urinate from two places) they removed both of my testes and replaced them with adult prostetic ones.. hence im infertile. my joints i cant straighten and i walk with an unsteady gait. im developing arthiritis in my knees can get quite sore sometimes when walking. i suffer from really bad dizzy spells sometimes (low blood pressure apparently) and all this to do with marden walker syndrome lol wow im 28 now and used to stop breathing for no reason until i grew out of that. if anybody has anymore information please could u email me at chris1011981@yahoo.co.uk im from the united kingdom. many thanks ps to mellan you have a beautiful country (america) been to florida and had the best time ever.. god bless you
11 Aug 2009, 09:37 PM
Hi Lynette, You can reach me on Facebook. Just search MaryEllen Spencer. I'm in Virginia/DC
6 Nov 2008, 07:01 PM
I am trying to contact the lady that has a daughter with marden walker syndrome both of my kids have mws my son aslo has dandy walker malformation Thanks Lynette Daniel 15 mws and dandy walker malformation Tiffany 12 on dec 9 mws
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marden walker syndrome
Created by Lynette | Last updated 7 Nov 2009, 01:14 AM
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