Living with DOORS syndrome
An inherited condition present from birth with hearing loss, short or missing nails, short fingers and toes, developmental delay, and seizures.
Understanding DOORS syndrome
The name stands for Deafness, Onychodystrophy (short or absent nails), Osteodystrophy (short fingers and toes), Intellectual disability, and Seizures. Most people have profound hearing loss from the inner ear. Developmental delay and intellectual disability are often severe. Seizures usually start in infancy and can be of several types. Some people do not have all of these features.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Short or absent fingernails and toenails
- Short fingers and toes
- Seizures, including grand mal (tonic-clonic)
- Delays in overall development
- Low muscle tone in infancy
- Extra fluid around the baby before birth (polyhydramnios)
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 TBC1D24 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 TBC1D24 gene cause this condition. It is autosomal recessive, meaning a child inherits a changed copy of the gene from each parent.
Also known as: autosomal recessive deafness onychodystrophy syndrome; autosomal recessive deafness-onychodystrophy syndrome; autosomal recessive hearing loss-onychodystrophy syndrome; brachydactyly due to absence of distal phalanges; deafness-onychodystrophy-osteodystrophy-intellectual disability syndrome; deafness-onychodystrophy-osteodystrophy-intellectual disability-seizures 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 DOORS syndrome.
Explore research for DOORS syndrome
Explore actively recruiting DOORS syndrome studies with HealthSpark.
Find actively recruiting studies for DOORS syndrome with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
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- Eligibility is confirmed by the study team
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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
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