Living with Craniofacial microsomia
A group of conditions in which the face and ears develop unevenly before birth, often more on one side.
Understanding Craniofacial microsomia
Most people have differences between the right and left sides of the face. In about two-thirds of cases both sides are affected, usually unequally. One side of the upper or lower jaw may be underdeveloped, which can cause dental, feeding, speech, and sometimes breathing problems. Ears may be small or absent, with skin tags or a closed ear canal, which can cause hearing loss. Eye, spine, kidney, and heart differences can also occur.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Uneven face (facial asymmetry)
- Small or underdeveloped jaw
- Small or missing ears (microtia)
- Hearing loss
- Skin tags in front of the ear
- Spine differences, such as scoliosis
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 bone and joint specialists, ear, nose, and throat specialists, eye disease 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
- Bone and joint specialists (orthopedists or orthopedic surgeons); Ear, nose, and throat specialists (otolaryngologists); Eye disease specialists (ophthalmologists); 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 FACES: The National 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
Quick facts
GARD says changes in genes cause this condition. It doesn't name a gene.
Also known as: expanded spectrum hemifacial microsomia; expanded spectrum of hemifacial microsomia; facio-auriculo-vertebral spectrum; facio-auriculo-vertebral syndrome; facioauriculovertebral dysplasia; first and second branchial arch syndrome
Patient organizations
- FACES: The National Craniofacial AssociationCraniofacial microsomia · United States
- World Craniofacial FoundationCraniofacial anomalies · United States
- Children's Craniofacial AssociationCraniofacial anomalies · United States
- myFaceCraniofacial anomalies · United States
You are more than your diagnosis
Perspectives from people navigating life with Craniofacial microsomia.
Explore research for Craniofacial microsomia
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