Living with Siegler-Brewer-Carey syndrome
A very rare genetic condition that affects the lungs, eyes, ears, gut and kidneys, starting in infancy.
Understanding Siegler-Brewer-Carey syndrome
It is marked by cataracts, ear infections, trouble absorbing food in the intestines, long-lasting lung infections and poor weight gain. Repeated pneumonia and worsening kidney function have also been observed. GARD notes there have been no further descriptions in the medical literature since 1992. It starts in the newborn and infant period.
Signs & symptoms
GARD doesn't list specific symptoms for this condition yet. Based on its summary, features include:
- Cataracts
- Ear infections
- Trouble absorbing food in the gut
- Long-lasting lung infections
- Poor weight gain (failure to thrive)
- Repeated pneumonia
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 eye disease specialists, genetic specialists and lung and breathing specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- Eye disease specialists (ophthalmologists); Genetic specialists (geneticists); Lung and breathing specialists (pulmonologists)
- 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 cause this condition, but it doesn't list a gene. A child inherits a changed copy of the gene from each parent (autosomal recessive).
Also known as: siegler brewer carey syndrome
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 Siegler-Brewer-Carey syndrome.
Explore research for Siegler-Brewer-Carey syndrome
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- Recruiting studies from ClinicalTrials.gov
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