Overview
Macrocephaly-spastic paraplegia-dysmorphism syndrome is a very rare genetic condition that affects the brain, movement, and physical appearance. 'Macrocephaly' means having an unusually large head, 'spastic paraplegia' refers to stiffness and weakness in the legs that makes walking difficult, and 'dysmorphism' describes distinctive facial or body features that differ from typical development. This syndrome is sometimes referred to by its Orphanet code ORPHA:2429 and falls under the broader category of rare congenital malformation syndromes. People with this condition typically show signs from early in life, including a larger-than-normal head size, delayed motor milestones such as sitting or walking, and progressive leg stiffness. Intellectual disability of varying degrees is also commonly reported. The facial features may include a broad forehead, widely spaced eyes, or other subtle differences in appearance. There is currently no cure for this syndrome. Treatment focuses on managing symptoms and improving quality of life. This includes physical therapy to help with movement and muscle stiffness, occupational therapy to support daily activities, and educational support for learning difficulties. A team of specialists typically works together to provide the best possible care for affected individuals and their families.
Also known as:
Key symptoms:
Unusually large head size (macrocephaly)Stiffness and weakness in the legs (spastic paraplegia)Difficulty walking or delayed walkingIntellectual disability or learning difficultiesDistinctive facial features such as a broad forehead or widely spaced eyesDelayed developmental milestones (sitting, standing, walking)Muscle tone problems (too stiff or too floppy in early life)Speech and language delaysCoordination difficulties
Clinical phenotype terms (24)— hover any for plain English
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Infantile
Begins in infancy, roughly 1 month to 2 years old
Treatments
No FDA-approved treatments are currently listed for Macrocephaly-spastic paraplegia-dysmorphism syndrome.
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Specialists
View all specialists →No specialists are currently listed for Macrocephaly-spastic paraplegia-dysmorphism syndrome.
Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to Macrocephaly-spastic paraplegia-dysmorphism syndrome.
Community
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Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
Rare disease caregiving can be isolating. Connect with counseling and peer support.
Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
Social Security Disability
Learn how rare disease patients may qualify for SSDI/SSI benefits.
Questions for your doctor
Bring these to your next appointment
- Q1.What genetic tests should we do to confirm the diagnosis and find the specific cause?,What therapies are most important to start right away, and how often should they happen?,What signs should prompt us to seek emergency care?,Are there any clinical trials or research studies we could participate in?,What educational supports should we request for our child?,What is the likely progression of the leg stiffness over time, and what treatments are available?,Should other family members be tested, and what is the chance of this happening in future pregnancies?
Common questions about Macrocephaly-spastic paraplegia-dysmorphism syndrome
What is Macrocephaly-spastic paraplegia-dysmorphism syndrome?
Macrocephaly-spastic paraplegia-dysmorphism syndrome is a very rare genetic condition that affects the brain, movement, and physical appearance. 'Macrocephaly' means having an unusually large head, 'spastic paraplegia' refers to stiffness and weakness in the legs that makes walking difficult, and 'dysmorphism' describes distinctive facial or body features that differ from typical development. This syndrome is sometimes referred to by its Orphanet code ORPHA:2429 and falls under the broader category of rare congenital malformation syndromes. People with this condition typically show signs from
How is Macrocephaly-spastic paraplegia-dysmorphism syndrome inherited?
Macrocephaly-spastic paraplegia-dysmorphism syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Macrocephaly-spastic paraplegia-dysmorphism syndrome typically begin?
Typical onset of Macrocephaly-spastic paraplegia-dysmorphism syndrome is infantile. Age of onset can vary across affected individuals.