Living with Macular coloboma-cleft palate-hallux valgus syndrome
A rare genetic syndrome from birth with an eye difference, a cleft palate, and a turned big toe.
Understanding Macular coloboma-cleft palate-hallux valgus syndrome
People have a gap in the back of the eye (macular coloboma) on both sides, a cleft palate, and a bent big toe (hallux valgus). Differences of the pelvis, limbs, and fingers or toes were also reported. It is present from birth.
Signs & symptoms
GARD doesn't list specific symptoms for this condition yet, but its summary describes these:
- Gap in the back of both eyes (macular coloboma)
- Cleft palate
- Big toe bending toward the other toes (hallux valgus)
- Pelvis differences
- Limb and finger or toe differences
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, 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
- 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 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, meaning a child inherits a changed copy of the gene from each parent.
Also known as: coloboma of macula and skeletal anomalies
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 Macular coloboma-cleft palate-hallux valgus syndrome.
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