Living with Dysmorphism-conductive hearing loss-heart defect syndrome
A rare condition present from birth with distinct facial features, a cleft palate, hearing loss from the middle ear, and heart defects.
Understanding Dysmorphism-conductive hearing loss-heart defect syndrome
People have distinctive facial features, such as a low hairline, droopy eyelids, prominent eyes, and small low-set ears. They also have a cleft palate, conductive hearing loss (sound isn't carried well through the ear), and heart defects such as a hole in the heart wall. Mild developmental delay or intellectual disability may occur. Signs show up in the newborn and infant years.
Signs & symptoms
GARD doesn't list a separate symptom list for this condition, but the summary describes these features:
- Distinct facial features
- Droopy eyelids (ptosis)
- Cleft palate
- Hearing loss (conductive)
- Heart defects (hole in a heart wall)
- Mild developmental delay
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 and genetic specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Ear, nose, and throat specialists (otolaryngologists); Genetic specialists (geneticists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- 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 rare disease patient organizations for support
- 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 a person's genes cause this condition. It is autosomal dominant, meaning one changed copy of the gene can cause it.
Also known as: dysmorphism, conductive hearing loss, heart defect syndrome; facial dysmorphism, conductive hearing loss, heart defect syndrome; tyshchenko syndrome
Patient organizations
Rare-disease groups that can help
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Dysmorphism-conductive hearing loss-heart defect syndrome.
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