National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Marden-Walker syndrome

Marden-Walker syndrome (MWS) is a genetic condition affecting the connective tissue. MWS is very rare and information about this condition is based on less than 50 people. Features may include distinctive facial features, a cleft or high-arched palate, a small or receding jaw (micrognathia), fixed bone joints (contractures or arthrogryposis), and growth delay. Other symptoms may include a mask-like face with a narrowing of the eye opening (blepharophimosis), low-set ears, failure to thrive, and a generalized slowing down of physical reactions, movements, and speech. The cause of MWS is unknown. A few individuals have been found to have a PIEZO2 gene that is not working correctly. It is likely inherited in an autosomal recessive pattern.[1] This condition is diagnosed by a clinical exam and other medical tests. Treatment is based on managing the symptoms.[2][3][4]

Last updated: 5/20/2020
The following list includes the most common signs and symptoms in people with Marden-Walker syndrome (MWS). These features may be different from person to person. Some people may have more symptoms than others and symptoms can range from mild to severe. This list does not include every symptom or feature that has been described in this condition.[3][5]

Signs and symptoms include:
  • Mask-like face
  • Narrow eye opening (blepharophimosis)
  • Small mouth,
  • Small chin (micrognathia)
  • Cleft palate
  • Frozen joints (joint contractures)
  • Intellectual disability
  • Decreased muscle mass
Additional features may include arachnodactyly, chest deformities, curvature of the spine, and absent deep tendon reflexes. Some individuals have kidney, heart, or brain abnormalities.[4][6]

Marden-Walker syndrome (MWS) is very rare and little information is known about how the disease changes over time. Most signs of MWS are present at birth or in early infancy. As children with this condition grow, they may develop failure to thrive and intellectual disability. The joint contractures may get better with time.[3]
Last updated: 5/20/2020

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Showing of 85 |
Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Aplasia/Hypoplasia involving the skeletal musculature
Absent/small skeletal muscles
Absent/underdeveloped skeletal muscles
[ more ] 		0001460
Arachnodactyly
Long slender fingers
Spider fingers
[ more ] 		0001166
Arthrogryposis multiplex congenita 0002804
Bifid uvula 0000193
Blepharophimosis
Narrow opening between the eyelids
0000581
Failure to thrive
Faltering weight
Weight faltering
[ more ] 		0001508
Feeding difficulties
Feeding problems
Poor feeding
[ more ] 		0011968
Global developmental delay 0001263
Intellectual disability
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ] 		0001249
Joint stiffness
Stiff joint
Stiff joints
[ more ] 		0001387
Low-set ears
Low set ears
Lowset ears
[ more ] 		0000369
Mask-like facies
Expressionless face
Lack of facial expression
Mask-like facial appearance
[ more ] 		0000298
Microcephaly
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference
[ more ] 		0000252
Micrognathia
Little lower jaw
Small jaw
Small lower jaw
[ more ] 		0000347
Muscular dystrophy 0003560
Muscular hypotonia
Low or weak muscle tone
0001252
Narrow mouth
Small mouth
0000160
Posteriorly rotated ears
Ears rotated toward back of head
0000358
Ptosis
Drooping upper eyelid
0000508
Radioulnar synostosis
Fused forearm bones
0002974
Retrognathia
Receding chin
Receding lower jaw
Weak chin
Weak jaw
[ more ] 		0000278
Severe short stature
Dwarfism
Proportionate dwarfism
Short stature, severe
[ more ] 		0003510
Short palpebral fissure
Short opening between the eyelids
0012745
Skeletal muscle atrophy
Muscle degeneration
Muscle wasting
[ more ] 		0003202
Specific learning disability 0001328
Submucous cleft hard palate 0000176
30%-79% of people have these symptoms
Attention deficit hyperactivity disorder
Attention deficit
Attention deficit disorder
Attention deficit-hyperactivity disorder
Attention deficits
Childhood attention deficit/hyperactivity disorder
[ more ] 		0007018
Camptodactyly of finger
Permanent flexion of the finger
0100490
Intrauterine growth retardation
Prenatal growth deficiency
Prenatal growth retardation
[ more ] 		0001511
Kyphosis
Hunched back
Round back
[ more ] 		0002808
Pectus carinatum
Pigeon chest
0000768
Pectus excavatum
Funnel chest
0000767
Scoliosis 0002650
5%-29% of people have these symptoms
Abnormal form of the vertebral bodies 0003312
Abnormality of the cerebellar vermis 0002334
Absent septum pellucidum 0001331
Agenesis of corpus callosum 0001274
Cerebellar hypoplasia
Small cerebellum
Underdeveloped cerebellum
[ more ] 		0001321
Epispadias 0000039
Hydrocephalus
Too much cerebrospinal fluid in the brain
0000238
Hydronephrosis 0000126
Hydroureter 0000072
Hypospadias 0000047
Metatarsus adductus
Front half of foot turns inward
0001840
Multicystic kidney dysplasia 0000003
Pyloric stenosis 0002021
Renal agenesis
Absent kidney
Missing kidney
[ more ] 		0000104
Renal dysplasia 0000110
Situs inversus totalis
All organs on wrong side of body
0001696
Talipes 0001883
Ventricular septal defect
Hole in heart wall separating two lower heart chambers
0001629
Percent of people who have these symptoms is not available through HPO
Abnormality of the sternum
Sternal anomalies
0000766
Anteverted nares
Nasal tip, upturned
Upturned nasal tip
Upturned nose
Upturned nostrils
[ more ] 		0000463
Autosomal dominant inheritance 0000006
Autosomal recessive inheritance 0000007
Camptodactyly
Permanent flexion of the finger or toe
0012385
Cleft palate
Cleft roof of mouth
0000175
Congenital contracture 0002803
Cryptorchidism
Undescended testes
Undescended testis
[ more ] 		0000028
Dandy-Walker malformation 0001305
Decreased muscle mass 0003199
Dextrocardia
Heart tip and four chambers point towards right side of body
0001651
Epicanthus
Eye folds
Prominent eye folds
[ more ] 		0000286
Fixed facial expression
Unchanging facial expression
0005329
Generalized hypotonia
Decreased muscle tone
Low muscle tone
[ more ] 		0001290
High palate
Elevated palate
Increased palatal height
[ more ] 		0000218
High, narrow palate
Narrow, high-arched roof of mouth
Narrow, highly arched roof of mouth
[ more ] 		0002705
Hypertelorism
Wide-set eyes
Widely spaced eyes
[ more ] 		0000316
Hypoplasia of the brainstem
Small brainstem
Underdeveloped brainstem
[ more ] 		0002365
Inferior vermis hypoplasia 0007068
Inguinal hernia 0000023
Joint contracture of the hand 0009473
Long philtrum 0000343
Micropenis
Short penis
Small penis
[ more ] 		0000054
Microphthalmia
Abnormally small eyeball
0000568
Postnatal growth retardation
Growth delay as children
0008897
Primitive reflex 0002476
Pulmonary hypoplasia
Small lung
Underdeveloped lung
[ more ] 		0002089
Renal hypoplasia
Small kidneys
Underdeveloped kidneys
[ more ] 		0000089
Seizure 0001250
Short neck
Decreased length of neck
0000470
Strabismus
Cross-eyed
Squint
Squint eyes
[ more ] 		0000486
Talipes equinovarus
Club feet
Club foot
Clubfeet
Clubfoot
[ more ] 		0001762
Wide anterior fontanel
Wider-than-typical soft spot of skull
0000260
Zollinger-Ellison syndrome 0002044
Showing of 85 |
Last updated: 7/1/2020
The cause of Marden-Walker syndrome is unknown. Some individuals have been found to have a PIEZO2 gene that is not working correctly.[1][3]
Last updated: 5/20/2020
Marden-Walker syndrome is thought to be inherited in an autosomal recessive manner.[1][7] All individuals inherit two copies of each gene. Autosomal means the gene is found on one of the numbered chromosomes found in both sexes. Recessive means that both copies of the responsible gene must be altered to have the condition.

People with autosomal recessive conditions inherit one alteration from each of their parents. The parents, who each have one gene alteration, are known as carriers.  Carriers of an autosomal recessive condition typically do not have any signs or symptoms (they are unaffected). When two carriers of an autosomal recessive condition have children, there is a 25% (1 in 4) chance to have a child with the condition. 
Last updated: 5/20/2020
Marden-Walker syndrome (MWS) is diagnosed based on a clinical history, exam, and additional medical tests, such as imaging and nerve conduction studies. In addition, several other conditions resemble Marden-Walker syndrome and may need to be excluded.[6]
Last updated: 5/20/2020
Treatment for Marden-Walker syndrome (MWS) is based on managing the symptoms.[2][3]

Specialists who may be involved in the care of someone with Marden-Walker syndrome include:
  • Medical geneticist
  • Neurologist
  • Orthopedist
  • Physical therapist
  • Occupational therapist
Last updated: 5/20/2020
The exact number of people with Marden-Walker syndrome is unknown. It is extremely rare, with about 30-50 cases being reported in the medical literature.[3]
Last updated: 5/20/2020

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.

Conditions with similar signs and symptoms from Orphanet
Differential diagnosis includes trisomy 13 and 18, Smith-Lemli-Opitz syndrome, Zellweger syndrome, spinal cord injury, amyoplasia congenita, infantile spinal muscular atrophy, Moebius syndrome, congenital hypomyelinating neuropathy, blepharophimosis-intellectual deficit syndromes, Van den Ende-Gupta syndrome, Freeman-Sheldon syndrome, Schwartz-Jampel syndrome (same clinical presentation but MWS lacks myotonia), infantile neuronal degeneration and focal infantile spinal muscular atrophy.
Visit the Orphanet disease page for more information.

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

  • The Centers for Mendelian Genomics program is working to discover the causes of rare genetic disorders. For more information about applying to the research study, please visit their website.

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

  • The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

In-Depth Information

  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Marden-Walker syndrome. Click on the link to view a sample search on this topic.

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know.

  1. McMillin, M et al. Mutations in PIEZO2 Cause Gordon Syndrome, Marden-Walker Syndrome, and Distal Arthrogryposis Type 5. Am J Hum Genet. May 1, 2014; 94(5):734-44. http://www.ncbi.nlm.nih.gov/pubmed/24726473.
  2. Marden Walker Syndrome. National Organization for Rare Disorders (NORD). 2004; http://rarediseases.org/rare-diseases/marden-walker-syndrome/. Accessed 8/3/2016.
  3. Injeti G, Taksande A. Marden-Walker syndrome. Orphanet. Updated Dec 2019; https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2461.
  4. Theys T, Van Geet C, Didgar M. Novel findings in the Marden-Walker syndrome. J Pediatr Surg. 2011; 46(4):e35-e37. https://pubmed.ncbi.nlm.nih.gov/21496524.
  5. Dumic M, Rojnic-Putarek N, Skrablin-Kucic S, Matic T, Ille J, Radica A. Marden-Walker syndrome--a case report. Lijec Vjesn. 2009; http://www.ncbi.nlm.nih.gov/pubmed/19769282. Accessed 5/27/2011.
  6. Niederhoffer KY, Fahiminiya S, Eydoux P, Mawson J, Nishimura G, et al. Diagnosis of Van den Ende-Gupta syndrome: Approach to the Marden-Walker-like spectrum of disorders. Am J Med Genet A. 2016; 170(9):2310-2321. https://pubmed.ncbi.nlm.nih.gov/27375131.
  7. Marden-Walker Syndrome. Online Mendelian Inheritance in Man (OMIM). Updated June 16, 2014; http://www.ncbi.nlm.nih.gov/omim/248700.