Living with Wieacker-Wolff syndrome
A rare genetic condition present at birth with stiff foot joints, muscle wasting, mild learning difficulty, and eye and face movement problems.
Understanding Wieacker-Wolff syndrome
It includes stiff joints in the feet, muscle wasting, mild intellectual disability, and trouble moving some muscles of the eyes, face, and tongue. Spasticity and seizures may also occur. Most affected people are male. GARD says carrier females have been reported to have mild symptoms.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Stiff foot joints (contractures)
- Muscle wasting in hands and feet
- Mild intellectual disability
- Global developmental delay
- Trouble moving the eyes
- Speech differences
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 and genetic specialists.
- 3Consider genetic testing
Changes in ZC4H2 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
Care & treatment
- Care team
- Bone and joint specialists (orthopedists or orthopedic surgeons); Brain and nervous system specialists (neurologists); Genetic specialists (geneticists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- 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 ZC4H2 Research Foundation
- 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
Wieacker-Wolff syndrome is caused by changes in the ZC4H2 gene. It is inherited in an X-linked recessive way.
Also known as: apraxia, oculomotor, with congenital contractures and muscle atrophy; contractures of feet, muscle atrophy, and oculomotor apraxia; foot contracture, muscle atrophy, oculomotor apraxia syndrome; foot contractures-muscle atrophy-oculomotor apraxia syndrome; intellectual disability-developmental delay-contractures syndrome; intellectual disability, developmental delay, contracture syndrome
Patient organizations
- ZC4H2 Research FoundationWieacker-Wolff syndrome · United States
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