Overview
Marfanoid habitus-autosomal recessive intellectual disability syndrome (also sometimes called Marfanoid habitus with intellectual disability, autosomal recessive type) is a rare genetic condition that affects both physical development and brain function. The name comes from two key features: a 'marfanoid habitus,' which means a tall, slender body build with long arms, legs, and fingers similar to what is seen in Marfan syndrome, and intellectual disability, meaning difficulties with learning, thinking, and daily problem-solving. Unlike Marfan syndrome itself, this condition is inherited in an autosomal recessive pattern, meaning a child must inherit a changed copy of the responsible gene from both parents to develop the condition. People with this syndrome typically have a distinctive physical appearance, including a tall and thin frame, long limbs, flexible joints, and sometimes features of the face and spine. Alongside these physical traits, individuals experience varying degrees of intellectual disability, which can affect speech, learning, and independent living skills. There is currently no cure for this condition. Care focuses on supporting development through therapies such as speech therapy, occupational therapy, and special education programs. Regular monitoring by a team of specialists helps manage symptoms and improve quality of life. Early diagnosis and intervention are important for the best possible outcomes.
Also known as:
Key symptoms:
Tall, slender body build with long arms and legsLong, thin fingers and toesIntellectual disability (difficulty with learning and thinking)Delayed speech and language developmentFlexible or loose jointsCurved spine (scoliosis)Distinctive facial features such as a long, narrow faceBehavioral or social difficultiesPoor muscle tone (hypotonia)Delayed developmental milestones such as walking or talking
Clinical phenotype terms (43)— hover any for plain English
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Childhood
Begins in childhood, roughly ages 1 to 12
Treatments
No FDA-approved treatments are currently listed for Marfanoid habitus-autosomal recessive intellectual disability syndrome.
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Specialists
View all specialists →No specialists are currently listed for Marfanoid habitus-autosomal recessive intellectual disability 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 Marfanoid habitus-autosomal recessive intellectual disability 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
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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 testing do you recommend to confirm the diagnosis and identify the specific gene involved?,What therapies should we start right away, and how often should they happen?,Are there any heart or other organ problems we should screen for, given the marfanoid features?,What educational supports should we put in place, and how do we access them?,What is the expected level of independence my child may achieve as an adult?,Are other family members at risk, and should they be tested?,Are there any clinical trials or research studies we should know about?
Common questions about Marfanoid habitus-autosomal recessive intellectual disability syndrome
What is Marfanoid habitus-autosomal recessive intellectual disability syndrome?
Marfanoid habitus-autosomal recessive intellectual disability syndrome (also sometimes called Marfanoid habitus with intellectual disability, autosomal recessive type) is a rare genetic condition that affects both physical development and brain function. The name comes from two key features: a 'marfanoid habitus,' which means a tall, slender body build with long arms, legs, and fingers similar to what is seen in Marfan syndrome, and intellectual disability, meaning difficulties with learning, thinking, and daily problem-solving. Unlike Marfan syndrome itself, this condition is inherited in an
How is Marfanoid habitus-autosomal recessive intellectual disability syndrome inherited?
Marfanoid habitus-autosomal recessive intellectual disability syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Marfanoid habitus-autosomal recessive intellectual disability syndrome typically begin?
Typical onset of Marfanoid habitus-autosomal recessive intellectual disability syndrome is childhood. Age of onset can vary across affected individuals.