ORPHA:2461
Marden-Walker syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Antenatal, Infancy, Neonatal
- Status
- active
A rare developmental defect during embryogenesis 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.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Marden-Walker syndrome | |
| fr | Syndrome de Marden-Walker | |
| de | Marden-Walker-Syndrom | |
| es | Síndrome de Marden-Walker | |
| it | Sindrome di Marden-Walker | |
| nl | Syndroom van Marden-Walker | |
| pt | Síndrome Marden-Walker | |
| pl | Zespół Mardena i Walkera | |
| cs | Mardenův-Walkerův syndrom | Marden-Walkerův syndrom |
| uk | Синдром Мардена-Уокера | |
| zh | Marden-Walker综合征 | |
| tr | Marden-Walker sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 248700 | E | validated | |
| ICD-10 | Q87.0 | NTBT | attributed | validated |
| ICD-11 | LD26.41 | NTBT | index | validated |
| MONDO | 0009564 | E | validated | |
| MeSH | C535910 | E | validated | |
| UMLS | C0796033 | E | validated | |
| GARD | 6973 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (5):
- ORPHA:1037Arthrogryposis multiplex congenita
rare developmental anomalies during embryogenesis; rare genetic diseases - ORPHA:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:728642Genetic syndrome or malformation associated with head and neck malformations
rare genetic diseases - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological diseases - ORPHA:156237Syndrome or malformation associated with head and neck malformations
rare developmental anomalies during embryogenesis; rare otorhinolaryngological diseases; rare surgical maxillo-facial diseases
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| PIEZO2 | Disease-causing germline mutation(s) in | Assessed | HGNC:26270 | ENSG00000154864 | 613629 | 18p11.22-p11.21 | piezo type mechanosensitive ion channel component 2 | 24726473[PMID] |
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Prevalence and incidence
3 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 50 cases | Worldwide | Case(s) | Validated | ORPHANET | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET |
| Prevalence at birth | 1-9 / 100 000 | 2.5 / 100 000 | Belgium | Value and class | Validated | [EXPERT] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
61 annotations · validated 2017-07-17| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001460 | Aplasia/Hypoplasia involving the skeletal musculature | |
| HP:0001166 | Arachnodactyly | |
| HP:0002804 | Arthrogryposis multiplex congenita | |
| HP:0000193 | Bifid uvula | |
| HP:0000581 | Blepharophimosis | |
| HP:0000175 | Cleft palate | |
| HP:0001508 | Failure to thrive | |
| HP:0011968 | Feeding difficulties | |
| HP:0001263 | Global developmental delay | |
| HP:0001510 | Growth delay | |
| HP:0001252 | Hypotonia | |
| HP:0001249 | Intellectual disability | |
| HP:0001387 | Joint stiffness | |
| HP:0000369 | Low-set ears | |
| HP:0000298 | Mask-like facies | |
| HP:0000252 | Microcephaly | |
| HP:0000347 | Micrognathia | |
| HP:0003560 | Muscular dystrophy | |
| HP:0000160 | Narrow mouth | |
| HP:0000358 | Posteriorly rotated ears | |
| HP:0000508 | Ptosis | |
| HP:0002974 | Radioulnar synostosis | |
| HP:0000278 | Retrognathia | |
| HP:0003510 | Severe short stature | |
| HP:0012745 | Short palpebral fissure | |
| HP:0003202 | Skeletal muscle atrophy | |
| HP:0001328 | Specific learning disability | |
| HP:0000176 | Submucous cleft hard palate | |
| Frequent (79-30%) | ||
| HP:0007018 | Attention deficit hyperactivity disorder | |
| HP:0100490 | Camptodactyly of finger | |
| HP:0001511 | Intrauterine growth retardation | |
| HP:0002808 | Kyphosis | |
| HP:0000768 | Pectus carinatum | |
| HP:0000767 | Pectus excavatum | |
| HP:0002650 | Scoliosis | |
| Occasional (29-5%) | ||
| HP:0004307 | Abnormal anatomic location of the heart | |
| HP:0030680 | Abnormal cardiovascular system morphology | |
| HP:0003312 | Abnormal form of the vertebral bodies | |
| HP:0002334 | Abnormality of the cerebellar vermis | |
| HP:0000077 | Abnormality of the kidney | |
| HP:0000036 | Abnormality of the penis | |
| HP:0010935 | Abnormality of the upper urinary tract | |
| HP:0000079 | Abnormality of the urinary system | |
| HP:0001331 | Absent septum pellucidum | |
| HP:0001274 | Agenesis of corpus callosum | |
| HP:0001321 | Cerebellar hypoplasia | |
| HP:0001651 | Dextrocardia | |
| HP:0000039 | Epispadias | |
| HP:0000238 | Hydrocephalus | |
| HP:0000126 | Hydronephrosis | |
| HP:0000072 | Hydroureter | |
| HP:0000047 | Hypospadias | |
| HP:0001840 | Metatarsus adductus | |
| HP:0000003 | Multicystic kidney dysplasia | |
| HP:0002021 | Pyloric stenosis | |
| HP:0000104 | Renal agenesis | |
| HP:0000110 | Renal dysplasia | |
| HP:0008678 | Renal hypoplasia/aplasia | |
| HP:0001696 | Situs inversus totalis | |
| HP:0001883 | Talipes | |
| HP:0001629 | Ventricular septal defect | |
Run the differential on the 12 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2461
- This record as JSON: /data/d/2461.json