Living with Bilateral microtia-deafness-cleft palate syndrome
A rare genetic syndrome with small ears, hearing loss, and cleft palate.
Understanding Bilateral microtia-deafness-cleft palate syndrome
It is noticed in newborns. Hearing loss is severe to profound. The ear canal may be narrow, and the outer ear may be small or overfolded.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Small ears on both sides (microtia)
- Hearing loss
- Cleft palate
- Narrow ear canal
- Overfolded outer ear
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.
- 3Consider genetic testing
Changes in HOXA2 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
World Craniofacial Foundation 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: World Craniofacial Foundation
- 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 World Craniofacial Foundation 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
Changes in the HOXA2 gene cause this condition. It can be inherited in an autosomal dominant or autosomal recessive way.
Also known as: bilateral microtia-hearing loss-cleft palate syndrome; microtia with or without hearing impairment (ad); microtia, hearing impairment, and cleft palate (ar)
Patient organizations
- World Craniofacial FoundationCraniofacial anomalies · United States
- Children's Craniofacial AssociationCraniofacial anomalies · United States
- FACES: The National Craniofacial AssociationCraniofacial anomalies · United States
- myFaceCraniofacial anomalies · United States
You are more than your diagnosis
Perspectives from people navigating life with Bilateral microtia-deafness-cleft palate syndrome.
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