Living with Ectrodactyly-ectodermal dysplasia-clefting syndrome
A rare condition with missing or split fingers and toes, hair and gland differences, and cleft lip or palate.
Understanding Ectrodactyly-ectodermal dysplasia-clefting syndrome
Symptoms range from mild to severe. The most common are missing or irregular fingers and toes (split hand/foot), hair and gland differences, cleft lip or palate, distinctive facial features, and eye and urinary tract differences. More than 90 percent of people have type 3, caused by changes in the TP63 gene. Signs begin during pregnancy or at birth.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Split hand or foot (ectrodactyly)
- Cleft lip or palate
- Fewer or small teeth with weak enamel
- Tear duct and eye problems
- Dry skin and coarse hair
- Small or missing kidney
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.
- 3Consider genetic testing
Changes in TP63 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
National Foundation for Ectodermal Dysplasias and 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: National Foundation for Ectodermal Dysplasias, 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 National Foundation for Ectodermal Dysplasias 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 the TP63 gene cause most cases (type 3), and a region on chromosome 7 is linked to type 1. It is autosomal dominant, meaning one changed copy of the gene can cause it.
Also known as: ectodermal dysplasia with ectrodactyly and cleft lip or palate; ectrodactyly ectodermal dysplasia cleft lip/palate; ectrodactyly-cleft lip/palate syndrome; ectrodactyly-ectodermal dysplasia-cleft lip/cleft palate; ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome; ectrodactyly-ectodermal dysplasia-cleft syndrome
Patient organizations
- National Foundation for Ectodermal DysplasiasEctrodactyly-ectodermal dysplasia-clefting syndrome · United States
- 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 Kidney FoundationKidney diseases · United States
- Renal Support NetworkKidney diseases · United States
- Children's Skin Disease FoundationSkin diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Ectrodactyly-ectodermal dysplasia-clefting syndrome.
Explore research for Ectrodactyly-ectodermal dysplasia-clefting syndrome
Explore actively recruiting Ectrodactyly-ectodermal dysplasia-clefting syndrome studies with HealthSpark.
Find actively recruiting studies for Ectrodactyly-ectodermal dysplasia-clefting syndrome with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
- Share your city to look for research near you
- Eligibility is confirmed by the study team
Powered by HealthSpark, our AI chat helper
I can help you find recruiting Ectrodactyly-ectodermal dysplasia-clefting syndrome studies. Enter a ZIP code, address or city below and I'll look within 50 miles.
Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
Get Signals for Ectrodactyly-ectodermal dysplasia-clefting syndrome
Stay in the loop with community stories and updates from medical researchers.
Create a living journal that talks back
HealthStory evolves private journaling with a living AI journal that talks back and asks thoughtful questions, helping you capture your Ectrodactyly-ectodermal dysplasia-clefting syndrome experiences more deeply and prepare for better conversations with your doctors and care team.
Your journal is private. Sharing your story publicly is a separate choice, made with Share your story above.