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.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version September 2023.
Newly diagnosed with
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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.
Help Hope Live
Help Hope Live assists individuals living with catastrophic injuries and illnesses to fundraise toward their medical expenses and related costs.
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.
My Faulty Gene
My Faulty Gene is a nonprofit organization which provides information and assistance to any individual whose family medical history suggests genetic testing might be helpful in identifying an increased risk of disease due to a genetic mutation. We believe that everyone in need of genetic testing should have access to it.
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
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