Overview
Intrauterine growth restriction-congenital multiple café-au-lait macules-increased sister chromatid exchange syndrome is an extremely rare genetic condition that affects growth and causes distinctive skin markings from birth. The name describes its three main features: babies grow more slowly than expected in the womb (intrauterine growth restriction, or IUGR), they are born with multiple flat, light-brown skin spots called café-au-lait macules, and their cells show an unusual pattern when studied in the lab called increased sister chromatid exchange (SCE), which means the chromosomes swap genetic material more often than normal. This increased SCE is a sign of underlying instability in how the body copies and repairs its DNA. This condition is sometimes grouped with a broader category of DNA repair disorders and chromosome instability syndromes. Because it is so rare, much of what is known comes from a very small number of reported cases. The growth restriction that begins before birth often continues after birth, meaning affected children tend to be smaller than their peers. The café-au-lait spots are harmless on their own but are an important clue for diagnosis. There is currently no cure for this condition. Care focuses on monitoring growth, supporting development, and watching for any complications that may arise. A team of specialists is usually needed to provide the best support for affected individuals and their families.
Key symptoms:
Slow growth before birth (intrauterine growth restriction)Being born smaller than expected (low birth weight)Multiple flat, light-brown skin spots (café-au-lait macules) present from birthShort stature that continues after birthChromosomes that swap genetic material more often than normal (increased sister chromatid exchange)Possible mild facial differencesPotential developmental delays in some cases
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for Intrauterine growth restriction-congenital multiple café-au-lait macules-increased sister chromatid exchange syndrome.
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Specialists
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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 Intrauterine growth restriction-congenital multiple café-au-lait macules-increased sister chromatid exchange syndrome.
Community
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Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
Rare disease caregiving can be isolating. Connect with counseling and peer support.
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 genetic tests should we do to try to find the cause of this condition?,How often should my child's growth be monitored, and when should we consider seeing an endocrinologist?,Does the increased sister chromatid exchange put my child at higher risk for cancer or other serious health problems?,Are there early intervention or developmental support programs you recommend?,Should other family members be tested or evaluated?,Are there any research studies or registries for this condition that we could join?,What signs or symptoms should prompt us to seek urgent medical attention?
Common questions about Intrauterine growth restriction-congenital multiple café-au-lait macules-increased sister chromatid exchange syndrome
What is Intrauterine growth restriction-congenital multiple café-au-lait macules-increased sister chromatid exchange syndrome?
Intrauterine growth restriction-congenital multiple café-au-lait macules-increased sister chromatid exchange syndrome is an extremely rare genetic condition that affects growth and causes distinctive skin markings from birth. The name describes its three main features: babies grow more slowly than expected in the womb (intrauterine growth restriction, or IUGR), they are born with multiple flat, light-brown skin spots called café-au-lait macules, and their cells show an unusual pattern when studied in the lab called increased sister chromatid exchange (SCE), which means the chromosomes swap gen
How is Intrauterine growth restriction-congenital multiple café-au-lait macules-increased sister chromatid exchange syndrome inherited?
Intrauterine growth restriction-congenital multiple café-au-lait macules-increased sister chromatid exchange syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Intrauterine growth restriction-congenital multiple café-au-lait macules-increased sister chromatid exchange syndrome typically begin?
Typical onset of Intrauterine growth restriction-congenital multiple café-au-lait macules-increased sister chromatid exchange syndrome is neonatal. Age of onset can vary across affected individuals.