Living with Agnathia-otocephaly complex
An extremely rare condition present before birth, with a missing lower jaw, ears set low on the head, and other facial and brain differences.
Understanding Agnathia-otocephaly complex
Features include brain malformations tied to a problem in how the embryonic brain divides, ears that are low-set and joined at the midline (otocephaly), a very small mouth, and a small or missing tongue. Some people have organs on the opposite side of the body (situs inversus). It is present during pregnancy or at birth.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Missing lower jaw (agnathia)
- Low-set ears joined at the midline (otocephaly)
- Breathing difficulties
- Missing or small cerebellum
- Missing corpus callosum
- Organs on the opposite side of the body (situs inversus)
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 and genetic specialists.
- 3Consider genetic testing
Changes in PRRX1 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
- Brain and nervous system specialists (neurologists); 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 The Carter Centers for Brain Research in Holoprosencephaly and Related Malformations
- 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 lists the PRRX1 gene for this condition. It lists both autosomal dominant and autosomal recessive inheritance.
Also known as: agnathia-holoprosencephaly-situs inversus syndrome; dysgnathia complex agnathia-holoprosencephaly; holoprosencephaly-agnathia; otocephalic syndrome; otocephalus; otocephaly
Patient organizations
- The Carter Centers for Brain Research in Holoprosencephaly and Related MalformationsAgnathia-otocephaly complex · United States
You are more than your diagnosis
Perspectives from people navigating life with Agnathia-otocephaly complex.
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