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Living with Microtia-Anotia

A condition present from birth in which the outer ear is small or abnormally shaped, or missing completely.

Understanding Microtia-Anotia

Microtia-Anotia is a condition present from birth in which the outer ear is small and misshapen, or missing.

It usually affects one ear but can affect both. It is seen more often in males. Ear size ranges from slightly smaller than usual to complete absence of the outer ear and ear canal (anotia). It is often linked with a blocked or narrow ear canal, attention deficit, and delayed language development.

Signs & symptoms

Symptoms vary from person to person. GARD lists these among the most common:

  • Small ears (microtia)
  • Abnormally shaped ears
  • Missing outer ear (anotia)
  • Absent ear canal
  • Hearing loss in one ear
  • Delayed speech and language development

Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.

Diagnosis

  1. Talk with your doctor

    Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.

  2. See a specialist

    Specialists who may be involved include ear, nose, and throat specialists and genetic specialists.

  3. Consider 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.

Care & treatment

Care team
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 Children's Craniofacial Association
  • 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
Bring these questions to your next doctor visit
What hearing tests and hearing supports are right for my child?
Can genetic testing for the HOXA2 gene help in our family?
What options exist for the ear and ear canal, and when?

Quick facts

Symptoms usually startNewborn and as an Infant
InheritanceAutosomal Dominant, Autosomal Recessive
GenesHOXA2

This condition is linked to changes in the HOXA2 gene. It can be autosomal dominant (a changed copy from one parent is enough) or autosomal recessive (a changed copy from each parent).

Genetic

Also known as: congenital microtias; m-a; microtia; microtia, congenital; microtias, congenital

Patient organizations

Source: NIH GARD · Microtia-AnotiaGARD ID 431 · GARD page updated September 2026 · Plain-language summary by Know Rare; editorial review pending. General information, not medical advice.

You are more than your diagnosis

Perspectives from people navigating life with Microtia-Anotia.

Explore the Microtia-Anotia blog

Explore research for Microtia-Anotia

Explore actively recruiting Microtia-Anotia studies with HealthSpark.

HealthSpark

Find actively recruiting studies for Microtia-Anotia with HealthSpark. Share your city to explore research near you.

  • Recruiting studies from ClinicalTrials.gov
  • Share your city to look for research near you
  • 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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