Living with Deafness-epiphyseal dysplasia-short stature syndrome
A rare genetic condition with profound hearing loss from birth, short stature, bone growth differences, and learning challenges.
Understanding Deafness-epiphyseal dysplasia-short stature syndrome
It includes profound hearing loss in both ears from birth, developmental delay, and moderate intellectual disability. Bones mature slowly, and the ends of the thigh bones are affected (epiphyseal dysplasia). Mild facial differences, blocked tear ducts, and hernias have also been described.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Hearing loss
- Short stature
- Delayed development overall
- Mild intellectual disability
- Blocked tear ducts
- Hernias in the groin or belly button
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 ear, nose, and throat specialists and genetic specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
- 4Connect with expert centers
Little People of America may keep lists of experts for this condition.
Care & treatment
- Care team
- Ear, nose, and throat specialists (otolaryngologists); Genetic specialists (geneticists)
- Expert care
- Expert lists: Little People of America
- 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 Little People of America
- 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. It doesn't list a specific gene or inheritance pattern.
Also known as: chitty hall baraitser syndrome; chitty-hall-baraitser syndrome; deafness with epiphyseal dysplasia and short stature syndrome; growth retardation, deafness, femoral epiphyseal dysplasia, and lacrimal duct obstruction; hearing loss-epiphyseal dysplasia-short stature syndrome
Patient organizations
- Little People of AmericaDeafness-epiphyseal dysplasia-short stature syndrome · United States
You are more than your diagnosis
Perspectives from people navigating life with Deafness-epiphyseal dysplasia-short stature syndrome.
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