Living with Intrauterine growth retardation with increased mitomycin c sensitivity
A rare condition that affects growth and development in babies, who have a small head and body, and whose cells are very sensitive to a drug called mitomycin C.
Understanding Intrauterine growth retardation with increased mitomycin c sensitivity
Babies with this condition have a small head and body and may have a distinctive face. They may also have developmental delays. Some babies develop pancytopenia, which means low levels of red blood cells, white blood cells, and platelets. Their chromosomes can be damaged by a drug called mitomycin C.
Signs & symptoms
GARD doesn't list specific symptoms for this condition yet, but its summary describes these features:
- Small head
- Small body size
- Distinctive facial features
- Developmental delays
- Low blood cell counts (pancytopenia)
- Extra sensitivity to mitomycin C
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
Your doctor may refer you to a specialist who knows rare conditions.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- A doctor familiar with rare conditions, plus specialists as needed
- 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 rare disease patient organizations for support
- 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 lists autosomal recessive inheritance, meaning a child inherits a changed copy of the gene from each parent. GARD doesn't name the gene or describe a cause beyond that.
Patient organizations
Rare-disease groups that can help
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
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