Dominant deafness onychodystrophy syndrome

Common Name(s)

Dominant deafness onychodystrophy syndrome, DDOD, Deafness onychodystrophy autosomal dominant

Dominant deafness onychodystrophy syndrome , also known as DDOD, is a rare type of deafness that is present at birth. In this disorder, the onychodystrophy refers to abnormalities in the nails such as small or misshapen fingernails or toenails. In addition to the abnormalities of the nails, one may also be missing teeth or have misshapen teeth. The syndrome is a genetic disorder, and more specifically, is inherited (passed through families) in an autosomal dominant manner. We inherit our genes in pairs, one from each parent typically. Our genes are what control the growth, development and function of our bodies. Mutations or mistakes in a gene may cause problems. Autosomal dominant means that an individual needs only one copy of the changed or muted gene to have the condition. If an individual has the condition, than there is a 50% chance that they will pass it on to each of their children. However sometimes the mutation or change is sporadic or new (de novo), meaning it occurred when the egg or sperm was being made in one parent. Neither parent therefore would have the condition, but the individual affected with the condition now has a 50% chance of passing it to their own children. There are a number of options available for individuals with deafness, including learning sign language, working with a speech pathologist to learn spoken language, and/or cochlear implants. Parents should seek information about the range of options open to their child before deciding which options may work best for their child and family. Specialists may include an otologist, an audiologist, a speech-language pathologist, a clinical geneticist, and a genetic counselor. Support groups are also good resources of support and information.

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Advocacy and Support Organizations

 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Dominant deafness onychodystrophy syndrome" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Dominant deafness onychodystrophy syndrome" returned 1 free, full-text research articles on human participants. First 3 results:

De novo mutation in ATP6V1B2 impairs lysosome acidification and causes dominant deafness-onychodystrophy syndrome.
 

Author(s): Yongyi Yuan, Jianguo Zhang, Qing Chang, Jin Zeng, Feng Xin, Jianjun Wang, Qingyan Zhu, Jing Wu, Jingqiao Lu, Weiwei Guo, Xukun Yan, Hui Jiang, Binfei Zhou, Qi Li, Xue Gao, Huijun Yuan, Shiming Yang, Dongyi Han, Zixu Mao, Ping Chen, Xi Lin, Pu Dai

Journal: Cell Res.. 2014 Nov;24(11):1370-3.

 

Last Updated: 3 Nov 2014

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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

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