Rare Immunology News

Disease Profile

Marden-Walker syndrome

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
<1 / 1 000 000

< 331

US Estimated

< 514

Europe Estimated

Age of onset

Infancy

ageofonset-infancy.svg

ICD-10

Q87.0

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

no.svg

Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

rnn-autosomalrecessive.svg

X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

no.svg

X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

no.svg

Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

no.svg

Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

no.svg

Not applicable

no.svg

Other names (AKA)

MWS; Connective tissue disorder Marden Walker type

Categories

Congenital and Genetic Diseases; Ear, Nose, and Throat Diseases; Mouth Diseases;

Summary

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]

Symptoms

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]

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.

Cause

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]

Diagnosis

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]

Treatment

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
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
Abnormal sternum morphology
Abnormality of the sternum
Sternal anomalies

[ more ]

0000766
Anteverted nares
Nasal tip, upturned
Upturned nasal tip
Upturned nose
Upturned nostrils

[ more ]

0000463
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.

Learn more

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.

References

  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. https://www.ncbi.nlm.nih.gov/pubmed/24726473.
  2. Marden Walker Syndrome. National Organization for Rare Disorders (NORD). 2004; https://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; https://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; https://www.ncbi.nlm.nih.gov/omim/248700.

Rare Immunology News