Living with X-linked intellectual disability with marfanoid habitus
A condition (Lujan syndrome), almost only in males, with learning and behavior differences, tall thin build, and distinct facial features.
Understanding X-linked intellectual disability with marfanoid habitus
It occurs almost only in males. Intellectual disability is usually mild to moderate. Behavior can include hyperactivity, shyness, and attention-seeking, and some have features of autism. Physical features include a tall, thin body, a large head, a long thin face, and almost always low muscle tone. Signs begin in the newborn period or infancy.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Intellectual disability
- Tall, thin build
- Large head size (macrocephaly)
- Low muscle tone (hypotonia)
- Behavior differences such as hyperactivity
- Long fingers with very flexible joints
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.
- 3Consider genetic testing
Changes in MED12 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Genetic specialists (geneticists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- 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 Simons Searchlight
- 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
Lujan syndrome is caused by changes in the MED12 gene and follows X-linked inheritance.
Also known as: intellectual developmental disorder, x-linked, syndromic, lujan-fryns type; lujan syndrome; lujan-fryns syndrome; lujan-fryns syndrome, x-linked recessive; x-linked mental retardation with marfanoid habitus syndrome
Patient organizations
- Simons SearchlightX-linked intellectual disability with marfanoid habitus · United States
You are more than your diagnosis
Perspectives from people navigating life with X-linked intellectual disability with marfanoid habitus.
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