Living with Stromme syndrome
A rare genetic condition present at birth, with a small head, small eyes, and a blocked small intestine.
Understanding Stromme syndrome
Many people have a small intestine that is not formed typically and ends in a blockage. Facial features can include a narrow or sloped forehead, wide-set eyes, and a small jaw. Some people have delayed movement and coordination and intellectual disability. Some have heart, brain, or kidney problems, leg swelling, or low platelets.
Signs & symptoms
GARD lists less common symptoms only. The summary describes:
- Small head
- Small eyeballs
- Blocked small intestine
- Unusual facial features
- Delayed movement and coordination
- Intellectual disability
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, digestive system specialists, eye disease specialists and genetic specialists.
- 3Consider genetic testing
Changes in CENPF are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Digestive system specialists (gastroenterologists); Eye disease specialists (ophthalmologists); 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 National Kidney Foundation and other patient organizations
- 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
Changes in the CENPF gene cause this condition. It is autosomal recessive, meaning a child inherits a changed copy of the gene from each parent.
Also known as: apple peel intestinal atresia, ocular anomalies, microcephaly syndrome; apple peel syndrome with microcephaly and ocular anomalies; apple-peel intestinal atresia-ocular anomalies-microcephaly syndrome; ciliary dyskinesia, primary, 31; ciliary dyskinesia, primary, type 31; jejunal atresia with microcephaly and ocular anomalies
Patient organizations
- National Kidney FoundationKidney diseases · United States
- Renal Support NetworkKidney diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Stromme syndrome.
Explore research for Stromme syndrome
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- Recruiting studies from ClinicalTrials.gov
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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
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