Living with Hypertelorism, microtia, facial clefting syndrome
A very rare condition seen from birth with wide-set eyes, small ears, and cleft lip and palate.
Understanding Hypertelorism, microtia, facial clefting syndrome
People have hypertelorism (wide-set eyes), cleft lip and palate, and microtia (small ears). Others have a small head, hearing loss, kidney differences, short height, and developmental delay or intellectual disability. It may be seen during pregnancy or in newborns.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Wide-set eyes (hypertelorism)
- Small ears (microtia)
- Cleft lip or palate
- Hearing loss
- Small head (microcephaly)
- Developmental delay
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, 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
- Brain and nervous system specialists (neurologists); 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
Changes in genes (also called variants) cause this condition. It is autosomal recessive, so a child inherits a changed copy of the gene from each parent.
Also known as: bixler christian gorlin syndrome; bixler syndrome; bixler-christian-gorlin syndrome; hmc (hypertelorism, microtia, clefting) syndrome; hmc syndrome; hypertelorism with microtia and facial clefting 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 Hypertelorism, microtia, facial clefting syndrome.
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