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Start free with EleplanMarden-Walker syndrome
ORPHA:2461Malformation syndrome
What it is
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.
Key facts
- Prevalence
- <1 / 1 000 000
- Age of onset
- Antenatal, Infancy, Neonatal
- Inheritance
- Autosomal recessive
- Classified as
- Malformation syndrome
Prevalence figures describe populations, not individuals, and are often estimates from a single study. Where the figure is an incidence or a birth prevalence, it says so.
Signs and symptoms
Very common80–99%
28- Aplasia/Hypoplasia involving the skeletal musculature
- Arachnodactyly
- Arthrogryposis multiplex congenita
- Bifid uvula
- Blepharophimosis
- Cleft palate
- Failure to thrive
- Feeding difficulties
- Global developmental delay
- Growth delay
- Hypotonia
- Intellectual disability
- Joint stiffness
- Low-set ears
- Mask-like facies
- Microcephaly
- Micrognathia
- Muscular dystrophy
- Narrow mouth
- Posteriorly rotated ears
- Ptosis
- Radioulnar synostosis
- Retrognathia
- Severe short stature
- Short palpebral fissure
- Skeletal muscle atrophy
- Specific learning disability
- Submucous cleft hard palate
Common30–79%
7Sometimes5–29%
26- Abnormal anatomic location of the heart
- Abnormal cardiovascular system morphology
- Abnormal form of the vertebral bodies
- Abnormality of the cerebellar vermis
- Abnormality of the kidney
- Abnormality of the penis
- Abnormality of the upper urinary tract
- Abnormality of the urinary system
and 18 more in this range
These ranges are how often a sign appears across everyone diagnosed, not a prediction for one person — most people have some of these and not others. Orphanet also records findings that are specifically absent in this disease; those are in the data but not listed here.
Gene
ICD-10 codes
ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.
Related health topics
Reached through the ICD-10 categories this disease is filed under, so these describe the broader group rather than this disease specifically.
Cross-references
Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.
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