Living with Isotretinoin-like syndrome
A genetic condition that looks like the birth differences linked to isotretinoin exposure before birth, affecting the heart, ears, brain, and growth.
Understanding Isotretinoin-like syndrome
It is a phenocopy, meaning it looks like the pattern of birth differences linked to isotretinoin exposure, but has a different cause. Babies can have heart and blood vessel differences, a small head, ear and hearing differences, a cleft palate, and slowed growth and development. It is seen in newborns and infants.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Heart and blood vessel differences
- Small head (microcephaly)
- Hearing loss in both ears
- Missing ear canal or small inner ear
- Cleft palate and small lower jaw
- Feeding difficulties and slow growth
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 brain and nervous system specialists and genetic specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Genetic specialists (geneticists)
- 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 says changes in genes (also called variants) cause this condition. It lists autosomal recessive and X-linked inheritance.
Also known as: isotretinoin embryopathy-like syndrome; kawashima syndrome; microtia aortic arch syndrome; microtia-aortic arch syndrome; syndrome of microtia and aortic arch anomalies
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
You are more than your diagnosis
Perspectives from people navigating life with Isotretinoin-like syndrome.
Explore research for Isotretinoin-like syndrome
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- Recruiting studies from ClinicalTrials.gov
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- Eligibility is confirmed by the study team
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