Living with Macrocephaly-spastic paraplegia-dysmorphism syndrome
A rare inherited condition with a large head, worsening leg stiffness, distinct facial features, seizures, and intellectual disability.
Understanding Macrocephaly-spastic paraplegia-dysmorphism syndrome
The head grows larger than usual after birth, and the soft spot on top is large. Leg stiffness (spastic paraplegia) gets worse over time. People have facial differences, seizures, and intellectual disability of varying severity. It begins in childhood.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Larger than usual head (macrocephaly)
- Walking problems (gait disturbance)
- Increased reflexes
- Broad, high forehead
- Deeply set eyes
- Coarse facial features
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.
- 4Connect with expert centers
Spastic Paraplegia Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Genetic specialists (geneticists)
- Expert care
- Expert lists: Spastic Paraplegia 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 Spastic Paraplegia 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
GARD says inheritance appears to be autosomal recessive, which means a child inherits a changed copy of the gene from each parent. It does not name a gene.
Also known as: fryns macrocephaly; macrocephaly with spastic paraplegia and distinctive craniofacial appearance; macrocephaly with spastic paraplegia and dysmorphism syndrome
Patient organizations
- Spastic Paraplegia FoundationHereditary spastic paraplegia · United States
Broader rare-disease groups
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Macrocephaly-spastic paraplegia-dysmorphism syndrome.
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