Living with Congenital absence of salivary gland
A rare inherited condition where tear and salivary glands are missing or underdeveloped, causing dry eyes and dry mouth.
Understanding Congenital absence of salivary gland
Features start in infancy and can include repeated eye infections, irritated eyes, watery eyes, dry mouth, tooth decay, tooth wear and mouth inflammation.
Signs & symptoms
Symptoms vary from person to person. GARD's summary lists these features:
- Repeated eye infections
- Irritated eyes
- Dry mouth (xerostomia)
- Tooth decay
- Tooth wear (erosion)
- Mouth inflammation
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 and genetic specialists.
- 3Consider genetic testing
Changes in FGF10 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
- 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 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
Changes in the FGF10 gene are listed. It is autosomal dominant, so one changed copy of the gene is enough to cause it.
Also known as: alsg; aplasia of lacrimal and salivary gland; aplasia of lacrimal and salivary glands; congenital absence of lacrimal puncta and salivary glands; congenital aplasia of lacrimal gland co-occurrent with congenital aplasia of salivary gland; salivary glands, absence of
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 Congenital absence of salivary gland.
Explore research for Congenital absence of salivary gland
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