Overview
Intrauterine growth restriction-short stature-early adult-onset diabetes syndrome is an extremely rare genetic condition that affects growth and metabolism. The name describes its three main features: babies are smaller than expected during pregnancy (intrauterine growth restriction or IUGR), children remain short in stature as they grow, and diabetes develops unusually early in adulthood. This syndrome is caused by changes in the NAPRT gene, which plays a role in how the body processes a vitamin called niacin (vitamin B3) and produces a key molecule called NAD+ that cells need for energy and many other functions. Because NAD+ is important throughout the body, this condition can affect multiple systems. In addition to growth problems and early diabetes, some individuals may experience other metabolic or developmental challenges. The condition is present from before birth, as the growth restriction begins in the womb. Treatment is currently focused on managing symptoms. Growth hormone therapy may be considered for short stature, and diabetes is managed with standard approaches including blood sugar monitoring, dietary changes, and medications such as insulin or oral diabetes drugs. Because this syndrome is so rare, there is limited long-term data on outcomes, and care is typically coordinated by a team of specialists including endocrinologists and clinical geneticists. Research into NAD+ metabolism may eventually lead to more targeted therapies.
Key symptoms:
Baby smaller than expected during pregnancyLow birth weightShort stature throughout childhood and into adulthoodDiabetes developing in early adulthoodSmall head size at birthDelayed growth milestonesHigh blood sugar levelsPossible feeding difficulties in infancyPossible reduced muscle mass
Clinical phenotype terms (3)— 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 Intrauterine growth restriction-short stature-early adult-onset diabetes syndrome.
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Specialists
View all specialists →No specialists are currently listed for Intrauterine growth restriction-short stature-early adult-onset diabetes 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
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Caregiver Resources
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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.How will my child's growth be monitored, and is growth hormone therapy an option?,At what age should we start screening for diabetes, and how often?,Are there any dietary supplements like niacin that might help with this condition?,What type of diabetes is expected, and what will the treatment plan look like?,Should other family members be tested for the NAPRT gene variant?,Are there any clinical trials or research studies we can participate in?,What specialists should be part of our care team going forward?
Common questions about Intrauterine growth restriction-short stature-early adult-onset diabetes syndrome
What is Intrauterine growth restriction-short stature-early adult-onset diabetes syndrome?
Intrauterine growth restriction-short stature-early adult-onset diabetes syndrome is an extremely rare genetic condition that affects growth and metabolism. The name describes its three main features: babies are smaller than expected during pregnancy (intrauterine growth restriction or IUGR), children remain short in stature as they grow, and diabetes develops unusually early in adulthood. This syndrome is caused by changes in the NAPRT gene, which plays a role in how the body processes a vitamin called niacin (vitamin B3) and produces a key molecule called NAD+ that cells need for energy and
How is Intrauterine growth restriction-short stature-early adult-onset diabetes syndrome inherited?
Intrauterine growth restriction-short stature-early adult-onset diabetes syndrome follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Intrauterine growth restriction-short stature-early adult-onset diabetes syndrome typically begin?
Typical onset of Intrauterine growth restriction-short stature-early adult-onset diabetes syndrome is neonatal. Age of onset can vary across affected individuals.