Living with Malan overgrowth syndrome
A rare genetic syndrome with fast growth in infancy, a large head, distinct facial features, and intellectual disability.
Understanding Malan overgrowth syndrome
It causes overgrowth in infancy, a larger head size (macrocephaly), and a distinct face. People have intellectual disability and may have behavior concerns, including anxiety and aggression. Symptoms start in infancy.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Tall stature
- Larger than usual head (macrocephaly)
- Moderate intellectual disability
- Low muscle tone in newborns (hypotonia)
- Feeding difficulties in infancy
- Crossed eyes (strabismus)
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, genetic specialists and hormone specialists.
- 3Consider genetic testing
Changes in NFIX 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); Hormone specialists (endocrinologists)
- 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 Malan Syndrome 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 the NFIX gene cause this condition. It is inherited in an autosomal dominant way, so a change in one copy of the gene can be enough to cause it.
Also known as: malan syndrome; malns
Patient organizations
- Malan Syndrome FoundationMalan overgrowth syndrome · United States
You are more than your diagnosis
Perspectives from people navigating life with Malan overgrowth syndrome.
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