Living with Macrocephaly-short stature-paraplegia syndrome
A rare condition with a large head, short height, intellectual disability, leg stiffness, and brain differences.
Understanding Macrocephaly-short stature-paraplegia syndrome
People have varying degrees of leg stiffness (spastic paraplegia), and brain differences such as fluid buildup (hydrocephalus) and Dandy-Walker malformation. Facial and body features include a high, broad forehead, a flat midface, and small, broad hands and feet. It is noticed in adulthood.
Signs & symptoms
GARD doesn't list a separate symptom list. Its summary describes these features:
- Larger than usual head (macrocephaly)
- Short stature
- Intellectual disability
- Leg stiffness (spastic paraplegia)
- Brain differences (hydrocephalus, Dandy-Walker malformation)
- Small, broad hands and feet
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 brain and nervous system specialists and genetic specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- 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 Dandy-Walker Alliance, Inc.
- 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
GARD doesn't describe a cause for this condition yet.
Also known as: macrocephaly, intellectual disability, short stature, spastic paraplegia and cns malformations; macrocephaly, mental retardation, short stature, spastic paraplegia and cns malformations; macrocephaly, short stature, paraplegia syndrome; volcke soekarman syndrome; volcke-soekarman syndrome
Patient organizations
- Dandy-Walker Alliance, Inc.Macrocephaly-short stature-paraplegia syndrome · United States
You are more than your diagnosis
Perspectives from people navigating life with Macrocephaly-short stature-paraplegia syndrome.
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