Living with Blepharocheilodontic syndrome
A genetic condition present from birth that mainly affects the eyelids, upper lip, and teeth.
Understanding Blepharocheilodontic syndrome
Lower eyelids turn outward, and the eyelids may not close fully. Extra eyelashes can touch the eye and damage the clear front of the eye (cornea). Other features include widely spaced eyes, cleft lip and palate, fewer and cone-shaped teeth, and sparse hair. Some people also have fused fingers or toes.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Lower eyelids turned outward (ectropion)
- Extra eyelashes (distichiasis)
- Wide-set eyes
- Cone-shaped or small teeth
- Fused fingers (syndactyly)
- Hearing loss (conductive)
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, genetic specialists and gum, teeth and mouth 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 and National Foundation for Ectodermal Dysplasias 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); Gum, teeth and mouth specialists (odontologists)
- Expert care
- Expert lists: World Craniofacial Foundation, National Foundation for Ectodermal Dysplasias
- 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 cause this condition. It is autosomal dominant, so one changed copy of the gene is enough.
Also known as: bcd syndrome; blepharo-cheilo-odontic syndrome; clefting-ectropion-conical teeth syndrome; clefting, ectropion, and conical teeth; clefting, ectropion, conical teeth syndrome; ectropion inferior-cleft lip and or palate 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
- National Foundation for Ectodermal DysplasiasEctodermal dysplasias · United States
- Children's Skin Disease FoundationSkin diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Blepharocheilodontic syndrome.
Explore research for Blepharocheilodontic syndrome
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