Living with Intrauterine growth restriction-congenital multiple café-au-lait macules-increased sister chromatid exchange syndrome
A rare genetic condition with slow growth before and after birth, many light-brown skin patches, and a small head.
Understanding Intrauterine growth restriction-congenital multiple café-au-lait macules-increased sister chromatid exchange syndrome
A chromosome test shows high rates of sister chromatid exchange. Other described features are slow growth before and after birth, short stature, a small head, mild developmental delay, heart muscle disease, and acid reflux. A butterfly-shaped facial rash is typically absent. It begins during pregnancy or in the newborn period.
Signs & symptoms
GARD doesn't list a symptom list for this condition. Its summary describes:
- Many light-brown skin patches (cafe-au-lait macules)
- Slow growth before and after birth
- Short stature
- Small head (microcephaly)
- Mild developmental delay
- Heart muscle disease (cardiomyopathy)
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 genetic specialists and skin, hair, and nail specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- Genetic specialists (geneticists); Skin, hair, and nail specialists (dermatologists)
- 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 Children's Skin Disease 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
GARD says it is a genetic disease inherited in an autosomal recessive pattern, meaning a child inherits a changed copy of the gene from each parent. It doesn't name a gene.
Also known as: intrauterine growth restriction, congenital multiple café au lait macules, increased sister chromatid exchange syndrome
Patient organizations
- Children's Skin Disease FoundationSkin diseases · United States
Broader rare-disease groups
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Intrauterine growth restriction-congenital multiple café-au-lait macules-increased sister chromatid exchange syndrome.
Explore research for Intrauterine growth restriction-congenital multiple café-au-lait macules-increased sister chromatid exchange syndrome
Explore actively recruiting Intrauterine growth restriction-congenital multiple café-au-lait macules-increased sister chromatid exchange syndrome studies with HealthSpark.
Find actively recruiting studies for Intrauterine growth restriction-congenital multiple café-au-lait macules-increased sister chromatid exchange syndrome with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
- Share your city to look for research near you
- Eligibility is confirmed by the study team
Powered by HealthSpark, our AI chat helper
I can help you find recruiting Intrauterine growth restriction-congenital multiple café-au-lait macules-increased sister chromatid exchange syndrome studies. Enter a ZIP code, address or city below and I'll look within 50 miles.
Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
Get Signals for Intrauterine growth restriction-congenital multiple café-au-lait macules-increased sister chromatid exchange syndrome
Stay in the loop with community stories and updates from medical researchers.
Create a living journal that talks back
HealthStory evolves private journaling with a living AI journal that talks back and asks thoughtful questions, helping you capture your Intrauterine growth restriction-congenital multiple café-au-lait macules-increased sister chromatid exchange syndrome experiences more deeply and prepare for better conversations with your doctors and care team.
Your journal is private. Sharing your story publicly is a separate choice, made with Share your story above.