Living with Autosomal dominant deafness - onychodystrophy syndrome
A rare genetic condition present from birth with hearing loss, small or missing nails, and short or missing fingertip bones.
Understanding Autosomal dominant deafness - onychodystrophy syndrome
Hearing loss is present from birth and is severe. Fewer teeth than usual and a thumb with three bones (finger-like thumb) can occur. It is seen during pregnancy and in newborns.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Severe hearing loss from the inner ear
- Small or missing fingernails and toenails
- Fewer teeth than usual (oligodontia)
- Finger-like thumb (triphalangeal thumb)
- Differences in the teeth
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 brain and nervous system specialists, ear, nose, and throat specialists, eye disease specialists and genetic specialists.
- 3Consider genetic testing
Changes in ATP6V1B2 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
National Foundation for Ectodermal Dysplasias may keep lists of experts for this condition.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Ear, nose, and throat specialists (otolaryngologists); Eye disease specialists (ophthalmologists); Genetic specialists (geneticists)
- Expert care
- Expert lists: National Foundation for Ectodermal Dysplasias
- 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 National Foundation for Ectodermal Dysplasias and other patient organizations
- 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 the ATP6V1B2 gene cause this condition. It is autosomal dominant, meaning one changed copy of the gene can be enough to cause it.
Also known as: autosomal dominant deafness with onychodystrophy syndrome; autosomal dominant deafness-onychodystrophy syndrome; autosomal dominant hearing loss-onychodystrophy syndrome; autosomal dominant hearing loss, onychodystrophy syndrome; ddod (dominant deafness onychodystrophy) syndrome; ddod syndrome
Patient organizations
- National Foundation for Ectodermal DysplasiasEctodermal dysplasias · United States
- Children's Skin Disease FoundationSkin diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Autosomal dominant deafness - onychodystrophy syndrome.
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