Living with Singleton-Merten syndrome
A very rare genetic condition that affects the teeth, heart blood vessels and valves, and bones.
Understanding Singleton-Merten syndrome
The main features are tooth problems with gum infection, calcium deposits in the aorta and in heart valves, and thinning and weakening bones (osteoporosis), especially in the skull. Other findings may include short stature, muscle weakness, heart rhythm problems, psoriasis, joint and tendon problems, and glaucoma. Severe lupus can also occur.
Signs & symptoms
GARD doesn't list a separate symptom list for this condition. Based on its summary, features include:
- Tooth problems and gum infection
- Calcium deposits in the aorta and heart valves
- Thinning, weak bones (osteoporosis)
- Short stature and muscle weakness
- Psoriasis and other skin problems
- Glaucoma
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 autoimmune and inflammatory disease specialists, bone and joint 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
- autoimmune and inflammatory disease specialists (rheumatologists); Bone and joint specialists (orthopedists or orthopedic surgeons); 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 lists changes in the IFIH1 gene, or the DDX58 gene in an atypical form without tooth problems. It is inherited in an autosomal dominant pattern but can also appear in a family for the first time.
Also known as: merten-singleton syndrome; singleton merten syndrome; singleton-merten dysplasia; sm 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 Singleton-Merten syndrome.
Explore research for Singleton-Merten 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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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
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