Living with Conductive deafness-ptosis-skeletal anomalies syndrome
A rare genetic condition with hearing loss from ear canal changes, drooping eyelids and bone differences.
Understanding Conductive deafness-ptosis-skeletal anomalies syndrome
Hearing loss comes from a closed ear canal and middle ear, sometimes with long-lasting infections. People also have drooping eyelids and bone differences, such as hips that turn inward, dislocated elbows and curved pinkie fingers. Thin nose, delayed hair growth and abnormal teeth go with it. GARD notes no new descriptions in the literature since 1978.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Conductive hearing loss
- Closed or missing ear canal
- Drooping upper eyelid (ptosis)
- Elbow dislocation
- Curved pinkie finger (clinodactyly)
- Fine hair and tooth enamel differences
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 genetic specialists and skin, hair, and nail specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
- 4Connect with expert centers
National Foundation for Ectodermal Dysplasias may keep lists of experts for this condition.
Care & treatment
- Care team
- Genetic specialists (geneticists); Skin, hair, and nail specialists (dermatologists)
- 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 genes cause this condition, but doesn't list a specific gene. It is autosomal recessive, so a child inherits a changed copy from each parent.
Also known as: conductive deafness, ptosis, skeletal anomalies syndrome; conductive hearing loss-ptosis-skeletal anomalies syndrome; deafness, conductive, with ptosis and skeletal anomalies; jackson barr syndrome; jackson-barr 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 Conductive deafness-ptosis-skeletal anomalies syndrome.
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