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Disease Profile
Marden-Walker syndrome
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.
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Age of onset
Infancy
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.
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.
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.
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.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
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.
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.
Not applicable
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
Symptoms
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.
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 |
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 |
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 |
Low or weak muscle tone
|
0001252 |
Narrow mouth |
Small mouth
|
0000160 |
Posteriorly rotated ears |
Ears rotated toward back of head
|
0000358 |
Drooping upper eyelid
|
0000508 | |
Radioulnar synostosis |
Fused forearm bones
|
0002974 |
Retrognathia |
Receding chin
Receding lower jaw
Weak chin
Weak jaw
[ more ] |
0000278 |
Severe |
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 |
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 |
0001274 | |
Cerebellar hypoplasia |
Small cerebellum
Underdeveloped cerebellum
[ more ] |
0001321 |
Epispadias | 0000039 | |
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
- 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.
- Marden Walker Syndrome. National Organization for Rare Disorders (NORD). 2004; https://rarediseases.org/rare-diseases/marden-walker-syndrome/. Accessed 8/3/2016.
- 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.
- 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.
- 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.
- 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.
- Marden-Walker Syndrome. Online Mendelian Inheritance in Man (OMIM). Updated June 16, 2014; https://www.ncbi.nlm.nih.gov/omim/248700.
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