Living with Marden-Walker syndrome
A genetic condition affecting connective tissue, with stiff joints, a mask-like face, a cleft palate, and slow growth.
Understanding Marden-Walker syndrome
Features may include distinct facial features, a cleft or high palate, a small jaw, and fixed, stiff joints (contractures). Other signs include a mask-like face, narrow eye openings, low-set ears, and slow growth. Signs can begin in pregnancy, at birth, or in infancy.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Stiff joints from birth (arthrogryposis)
- Cleft palate
- Mask-like, expressionless face
- Drooping upper eyelids (ptosis)
- Slow growth and feeding difficulties
- Developmental delay and intellectual disability
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include bone and joint specialists, brain and nervous system specialists, ear, nose, and throat specialists and genetic specialists.
- 3Consider genetic testing
Changes in PIEZO2 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
World Craniofacial Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Bone and joint specialists (orthopedists or orthopedic surgeons); Brain and nervous system specialists (neurologists); Ear, nose, and throat specialists (otolaryngologists); Genetic specialists (geneticists)
- Expert care
- Expert lists: World Craniofacial Foundation
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with World Craniofacial Foundation and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
The cause is unknown. A few people have been found to have a PIEZO2 gene that is not working correctly. It is likely inherited in an autosomal recessive pattern, meaning a child inherits a changed copy of the gene from each parent.
Also known as: connective tissue disorder marden walker type; marden walker syndrome; mwks
Patient organizations
- World Craniofacial FoundationCraniofacial anomalies · United States
- Children's Craniofacial AssociationCraniofacial anomalies · United States
- FACES: The National Craniofacial AssociationCraniofacial anomalies · United States
- myFaceCraniofacial anomalies · United States
You are more than your diagnosis
Perspectives from people navigating life with Marden-Walker syndrome.
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