Living with Marfanoid habitus-autosomal recessive intellectual disability syndrome
A rare inherited condition with learning difficulties and a tall, slim build with long arms and fingers.
Understanding Marfanoid habitus-autosomal recessive intellectual disability syndrome
People may have trouble learning and understanding. They may have a flat face and features like those in Marfan syndrome, such as tall height and long arms and fingers. They may also have less body fat and weak muscles. It starts in infancy and childhood.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Developmental delay
- Tall height with long arm span
- Long, slender fingers (arachnodactyly)
- Loose joints
- Low muscle tone
- Flat face and 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
The Marfan 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: The Marfan 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 The Marfan 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
Changes in genes (also called variants) cause this condition. It is autosomal recessive, meaning a child inherits a changed copy of the gene from each parent.
Also known as: fragoso-cantú syndrome
Patient organizations
- The Marfan FoundationMarfanoid habitus-autosomal recessive intellectual disability syndrome · United States
You are more than your diagnosis
Perspectives from people navigating life with Marfanoid habitus-autosomal recessive intellectual disability syndrome.
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