Overview
Malan overgrowth syndrome (also called Sotos syndrome 2 or NFIX-related overgrowth syndrome) is a rare genetic condition that causes children to grow faster and larger than expected, both in body size and head size. It is caused by changes in a gene called NFIX, which plays an important role in how the brain and body develop before and after birth. The syndrome was first described by Dr. Alain Malan and colleagues and is recognized as a distinct condition from the more well-known Sotos syndrome, though the two share many features. Children with Malan syndrome typically have a tall stature, a larger-than-average head (macrocephaly), and distinctive facial features such as a long face, widely spaced eyes, and a prominent forehead. Most children also experience some degree of intellectual disability, ranging from mild to moderate, along with delayed speech and language development. Behavioral challenges, including anxiety, attention difficulties, and sometimes features of autism spectrum disorder, are also common. There is currently no cure for Malan syndrome. Treatment focuses on supporting each child's individual needs through speech therapy, occupational therapy, physical therapy, and educational support. Regular monitoring by a team of specialists helps manage symptoms and improve quality of life. With the right support, many individuals with Malan syndrome can make meaningful developmental progress.
Also known as:
Key symptoms:
Faster than normal growth in height and body size (overgrowth)Larger than average head size (macrocephaly)Intellectual disability, usually mild to moderateDelayed speech and language developmentDelayed motor milestones such as sitting and walkingDistinctive facial features including a long face, prominent forehead, and widely spaced eyesBehavioral challenges such as anxiety or attention difficultiesFeatures of autism spectrum disorder in some individualsLow muscle tone (hypotonia) in infancyFeeding difficulties in early infancyTall stature compared to peersLearning difficulties at school age
Clinical phenotype terms (38)— hover any for plain English
Autosomal dominant
Passed on from just one parent; each child has about a 50% chance of inheriting it
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for Malan overgrowth syndrome.
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Specialists
View all specialists →No specialists are currently listed for Malan overgrowth 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 Malan overgrowth syndrome.
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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 therapies should my child start right away, and how often should they attend?,Should we do any additional tests, such as brain MRI or heart evaluation?,What behavioral or emotional challenges should I watch for as my child grows?,How do I get an individualized education plan (IEP) set up for my child at school?,Are there any clinical trials or research studies we could participate in?,What does the long-term outlook look like for my child in terms of independence and daily living?,Should other family members be tested for changes in the NFIX gene?
Common questions about Malan overgrowth syndrome
What is Malan overgrowth syndrome?
Malan overgrowth syndrome (also called Sotos syndrome 2 or NFIX-related overgrowth syndrome) is a rare genetic condition that causes children to grow faster and larger than expected, both in body size and head size. It is caused by changes in a gene called NFIX, which plays an important role in how the brain and body develop before and after birth. The syndrome was first described by Dr. Alain Malan and colleagues and is recognized as a distinct condition from the more well-known Sotos syndrome, though the two share many features. Children with Malan syndrome typically have a tall stature, a
How is Malan overgrowth syndrome inherited?
Malan overgrowth syndrome follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Malan overgrowth syndrome typically begin?
Typical onset of Malan overgrowth syndrome is neonatal. Age of onset can vary across affected individuals.