Living with Keutel syndrome
An inherited condition with hardened cartilage in the ears, nose, and airway, narrowed lung arteries, and short fingertips.
Understanding Keutel syndrome
Other features include narrowing of the lung arteries (pulmonary artery stenosis), short fingers and nails that look like drumsticks, and facial differences. People may have hearing loss, repeated ear and sinus infections, frequent respiratory infections, mild intellectual disability, and a nasal voice. Most cases are diagnosed in childhood.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Hardening of cartilage (calcification)
- Narrowing of the lung artery
- Hearing loss
- Repeated ear and sinus infections
- Short fingertips and nails
- Mild 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 bone and joint specialists, brain and nervous system specialists and genetic specialists.
- 3Consider genetic testing
Changes in MGP 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
- Bone and joint specialists (orthopedists or orthopedic surgeons); 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
Changes in the MGP gene cause this condition. It is autosomal recessive, meaning a child inherits a changed copy of the gene from each parent.
Also known as: ktls; pulmonic stenosis-brachytelephalangism-calcification of cartilages syndrome; pulmonic stenosis, brachytelephalangism, calcification of cartilage 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 Keutel syndrome.
Explore research for Keutel syndrome
Explore actively recruiting Keutel syndrome studies with HealthSpark.
Find actively recruiting studies for Keutel syndrome with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
- Share your city to look for research near you
- 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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