Living with Nathalie syndrome
A rare genetic condition with hearing loss, childhood cataracts, short height, and heart and bone differences.
Understanding Nathalie syndrome
It involves hearing loss from inner ear problems, cataracts that start in childhood, underdeveloped secondary sexual characteristics, and a form of spinal muscular atrophy (nerve-related muscle weakness). Growth is slower, and there can be heart and bone differences. Heart rhythm problems can occur, and heart muscle problems have been described in some people.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Hearing loss (sensorineural)
- Cataracts (cloudy lenses)
- Short stature
- Irregular heart rhythm (arrhythmia)
- Underdeveloped secondary sexual characteristics
- Muscle weakness from nerve changes
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 ear, nose, and throat specialists, eye disease specialists, genetic specialists and heart and blood vessel specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
- 4Connect with expert centers
Children's Cardiomyopathy Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Ear, nose, and throat specialists (otolaryngologists); Eye disease specialists (ophthalmologists); Genetic specialists (geneticists); Heart and blood vessel specialists (cardiologists)
- Expert care
- Expert lists: Children's Cardiomyopathy Foundation
- 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 Children's Cardiomyopathy Foundation
- 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. A child inherits a changed copy of a gene from each parent (autosomal recessive).
Also known as: deafness with cataract and skeletal anomaly syndrome; deafness-cataract-skeletal anomalies syndrome; deafness-cataracts-skeletal anomalies syndrome; sensorineural hearing loss-cataract-skeletal anomalies-cardiomyopathy syndrome
Patient organizations
- Children's Cardiomyopathy FoundationCardiomyopathy · United States
Broader rare-disease groups
- 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 Nathalie syndrome.
Explore research for Nathalie syndrome
Explore actively recruiting Nathalie syndrome studies with HealthSpark.
Find actively recruiting studies for Nathalie 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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