
Living with Auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome
A rare genetic syndrome present from birth with ear differences, cleft lip with or without cleft palate, and eye differences.
Understanding Auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome
Ear differences include external ear changes and small pits behind the ear. It can also include nearsightedness, rapid eye movements, and differences in the retina. It is seen during pregnancy and from birth through infancy.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Differently shaped ears and small pits near the ears
- Cleft lip, with or without cleft palate
- Nearsightedness (myopia)
- Rapid eye movements (nystagmus)
- Small head and small lower jaw
- Funnel chest and curved spine
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.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
- 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
GARD says changes in genes (also called variants) cause this syndrome but doesn't list a specific gene or inheritance pattern.
Also known as: auricular abnormality, cleft lip, ocular abnormality syndrome
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 Auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome.
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