Overview
Macrocephaly-short stature-paraplegia syndrome is an extremely rare genetic condition that combines three main features: an unusually large head (macrocephaly), shorter-than-expected height (short stature), and progressive weakness or paralysis of the legs (paraplegia). This syndrome affects multiple body systems, primarily the brain and nervous system along with skeletal growth. Individuals with this condition are typically born with or develop a noticeably large head circumference during infancy or early childhood. Over time, they may experience increasing difficulty with walking and leg movement due to spastic paraplegia, which is caused by damage or dysfunction of the nerve pathways that control the lower limbs. Additional features that have been reported in some affected individuals include intellectual disability, developmental delays, and other neurological problems. The severity of symptoms can vary between individuals. Because this condition is so rare, with only a handful of cases described in the medical literature, the full range of symptoms and the natural history of the disease are not completely understood. There is currently no cure for this syndrome. Treatment is supportive and focuses on managing individual symptoms. This may include physical therapy and rehabilitation for mobility issues, orthopedic interventions for skeletal problems, and educational support for developmental delays. Regular monitoring by a team of specialists is important to address the various aspects of the condition as they arise.
Also known as:
Key symptoms:
Unusually large head size (macrocephaly)Short stature or growth delayProgressive leg weakness or paralysis (spastic paraplegia)Stiffness in the legsDifficulty walking or inability to walkIntellectual disabilityDevelopmental delaysAbnormal muscle toneSkeletal abnormalitiesSpeech delays
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-short stature-paraplegia syndrome.
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Specialists
View all specialists →No specialists are currently listed for Macrocephaly-short stature-paraplegia 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-short stature-paraplegia 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 is the expected progression of the leg weakness in my child's case?,Should we pursue genetic testing, and what type would be most informative?,How often should we schedule neurological and developmental evaluations?,What therapies are available to help maintain mobility and prevent contractures?,Are there any signs of hydrocephalus that we should watch for?,What educational and developmental support services should we seek?,Is genetic counseling recommended for our family regarding future pregnancies?
Common questions about Macrocephaly-short stature-paraplegia syndrome
What is Macrocephaly-short stature-paraplegia syndrome?
Macrocephaly-short stature-paraplegia syndrome is an extremely rare genetic condition that combines three main features: an unusually large head (macrocephaly), shorter-than-expected height (short stature), and progressive weakness or paralysis of the legs (paraplegia). This syndrome affects multiple body systems, primarily the brain and nervous system along with skeletal growth. Individuals with this condition are typically born with or develop a noticeably large head circumference during infancy or early childhood. Over time, they may experience increasing difficulty with walking and leg mov
How is Macrocephaly-short stature-paraplegia syndrome inherited?
Macrocephaly-short stature-paraplegia syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Macrocephaly-short stature-paraplegia syndrome typically begin?
Typical onset of Macrocephaly-short stature-paraplegia syndrome is infantile. Age of onset can vary across affected individuals.