Overview
Kosaki overgrowth syndrome is a rare genetic condition caused by changes in the PDGFRB gene. It belongs to a group of disorders called overgrowth syndromes, meaning that children with this condition tend to grow larger or taller than expected. The syndrome was first described by Japanese geneticist Kosaki and colleagues, and it is sometimes referred to as PDGFRB-related overgrowth syndrome. The condition affects multiple parts of the body. Children typically show signs from birth or early infancy, including being larger than average, having distinctive facial features, and showing differences in how their muscles and connective tissues develop. Some children also experience intellectual disability or developmental delays, meaning they may take longer to reach milestones like talking or walking. Right now, there is no cure for Kosaki overgrowth syndrome. Treatment focuses on managing individual symptoms, such as physical therapy for movement difficulties, educational support for learning challenges, and regular monitoring by a team of specialists. Because this condition is very rare, most of what doctors know comes from a small number of reported cases, and research is still ongoing.
Also known as:
Key symptoms:
Overgrowth — being larger or taller than expected for ageDistinctive facial features such as a broad forehead or widely spaced eyesIntellectual disability or learning difficultiesDevelopmental delays, such as late talking or walkingMuscle tone problems (muscles may be too loose or too stiff)Connective tissue differences affecting joints or skinEnlarged head size (macrocephaly)Feeding difficulties in infancyBehavioral challenges
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 Kosaki overgrowth syndrome.
View clinical trials →Clinical Trials
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Specialists
View all specialists →No specialists are currently listed for Kosaki 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 Kosaki overgrowth syndrome.
Community
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Caregiver Resources
NORD Caregiver Resources
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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 specific change was found in the PDGFRB gene, and what does it mean for my child's health?,What therapies should we start right away, and how often should my child receive them?,Are there any other health problems we should watch for as my child grows?,Should other family members be tested for this gene change?,Are there any clinical trials or research studies we could participate in?,What educational supports should we request for my child at school?,How often should my child be seen by the specialist team, and which specialists are most important?
Common questions about Kosaki overgrowth syndrome
What is Kosaki overgrowth syndrome?
Kosaki overgrowth syndrome is a rare genetic condition caused by changes in the PDGFRB gene. It belongs to a group of disorders called overgrowth syndromes, meaning that children with this condition tend to grow larger or taller than expected. The syndrome was first described by Japanese geneticist Kosaki and colleagues, and it is sometimes referred to as PDGFRB-related overgrowth syndrome. The condition affects multiple parts of the body. Children typically show signs from birth or early infancy, including being larger than average, having distinctive facial features, and showing differences
How is Kosaki overgrowth syndrome inherited?
Kosaki overgrowth syndrome follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Kosaki overgrowth syndrome typically begin?
Typical onset of Kosaki overgrowth syndrome is neonatal. Age of onset can vary across affected individuals.