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Living with Auriculocondylar syndrome

A condition that affects the development of the ears and lower jaw, including a distinctive "question mark" ear shape.

Understanding Auriculocondylar syndrome

Auriculocondylar syndrome is a condition that affects facial development, especially the ears and the lower jaw.

A hallmark is the "question mark ear," with a split between the upper ear and the earlobe. A small lower jaw can affect the jaw joint, so opening and closing the mouth can be hard. It can cause breathing problems, and many infants need a breathing tube. Features vary, even within families. Rarely, there are developmental delays.

Signs & symptoms

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

  • Question-mark-shaped ears
  • Small lower jaw (micrognathia)
  • Jaw joint (TMJ) problems
  • Trouble breathing in infancy
  • Cleft palate
  • Obstructive sleep apnea

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 bone and joint specialists, ear, nose, and throat specialists and genetic specialists.

  3. Ask which tests can help

    Your care team will decide which exams and tests can confirm the diagnosis.

  4. Connect with expert centers

    American Cleft Palate Craniofacial Association and World Craniofacial Foundation may keep lists of experts for this condition.

Care & treatment

Care team
Bone and joint specialists (orthopedists or orthopedic surgeons); Ear, nose, and throat specialists (otolaryngologists); Genetic specialists (geneticists)
Expert care
Expert lists: American Cleft Palate Craniofacial Association, 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 American Cleft Palate Craniofacial Association 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
Bring these questions to your next doctor visit
What breathing support does my child need?
Which jaw and facial specialists should be on our team?
Would genetic testing help our family?

Quick facts

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

GARD says changes in genes (also called variants) cause this condition. It can be inherited in a dominant way (one changed copy of the gene) or a recessive way (a changed copy from each parent).

Genetic

Also known as: auriculo-condylar syndrome; dysgnathia complex; question mark ear syndrome; question mark ears syndrome; question-mark ear syndrome

Patient organizations

Source: NIH GARD · Auriculocondylar syndromeGARD ID 9798 · 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 Auriculocondylar syndrome.

Explore the Auriculocondylar syndrome blog

Explore research for Auriculocondylar syndrome

Explore actively recruiting Auriculocondylar syndrome studies with HealthSpark.

HealthSpark

Find actively recruiting studies for Auriculocondylar syndrome with HealthSpark. Share your city to explore research near you.

  • Recruiting studies from ClinicalTrials.gov
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  • 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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