Deafness-enamel hypoplasia-nail defects syndrome
Synonyms: Hearing loss-enamel hypoplasia-nail defects syndrome | Heimler syndrome
A rare genetic disease characterized by sensorineural hearing loss abnormalities in the secondary dentition (such as enamel hypoplasia taurodontism or dental overcrowding) and nail abnormalities (including leukonychia and presence of transverse ridges). Association with macular dystrophy has also been reported.
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 2024
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Deafness-enamel hypoplasia-nail defects syndrome?
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Advocacy Organizations
National Foundation for Ectodermal Dysplasias
The NFED mission is to empower and connect those touched by ectodermal dysplasias through education, support and research.
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
The Global Foundation For Peroxisomal Disorders
To improve the lives of individuals with Peroxisomal Disorders by funding research, championing scientific collaboration, and empowering families and professionals through educational programs and support services.
Clinical Trials
For a list of clinical trials in this disease area, please click here.