Synonyms: Deafness-cataract-skeletal anomalies syndrome | Sensorineural hearing loss-cataract-skeletal anomalies-cardiomyopathy syndrome
A rare genetic developmental defect during embryogenesis disorder characterized by sensorineural hearing impairment childhood-onset cataract underdeveloped secondary sexual characteristics spinal muscular atrophy growth retardation and cardiac and skeletal anomalies. Sudden death as well as fatal cardiomyopathy and heart failure have been described in some cases.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version April 2026
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Nathalie syndrome?
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Advocacy Organizations
Children’s Cardiomyopathy Foundation
CCF's mission is to accelerate the search for causes and cures for pediatric cardiomyopathy through increased research, education, awareness, advocacy, and support to affected children and their families.
Heart of a Giant Foundation
The mission of the HGF is to achieve better health outcomes for heart diseases and related chronic health conditions in our communities and enhance the quality of life through health education, care support, and connection to community resources.
HeartCharged
Ending preventable deaths from undiagnosed heart conditions and sudden cardiac arrest, especially in young people, and providing patient-to-patient support.
RareDNA Foundation
Dedicated to improving outcomes for individuals and families affected by rare DNA heart mutations by advancing awareness, access and action. We increase awareness among medical professionals and the public, provide education and resources on diagnosis and treatment, support scientific research, and advocate for faster diagnostic pathways, giving families the knowledge and care they need.
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Clinical Trials
For a list of clinical trials in this disease area, please click here.