Living with Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome
A condition (AEC syndrome) that affects the skin, hair, nails, teeth, and sweat glands, with cleft lip or palate and eyelids stuck together.
Understanding Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome
A common feature is missing patches of skin (erosion), most often on the scalp in infants. It tends to come back through childhood and adulthood. Other features include changes in skin color, brittle or sparse hair, misshapen or missing nails, and malformed or missing teeth. Missing sweat glands can lead to overheating. Many babies are born with eyelids stuck together (ankyloblepharon).
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Eyelids stuck together (ankyloblepharon)
- Cleft palate
- Missing patches of skin (skin erosion)
- Coarse or sparse hair
- Cone-shaped or missing teeth
- Reduced sweating (hypohidrosis)
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
American Cleft Palate Craniofacial Association, 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: American Cleft Palate Craniofacial Association, 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 American Cleft Palate 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
Changes in the TP63 gene cause this condition. It is autosomal dominant, so a changed copy of the gene from one parent can be enough.
Also known as: aec - ankyloblepharon, ectodermal defects, cleft lip and palate; aec syndrome; ankyloblepharon-ectodermal defects-cleft lip and palate syndrome; ankyloblepharon-ectodermal defects, cleft lip/palate; ankyloblepharon-ectodermal dysplasia-clefting syndrome; ankyloblepharon, ectodermal defects, cleft lip and palate
Patient organizations
- American Cleft Palate Craniofacial AssociationAnkyloblepharon-ectodermal defects-cleft lip/palate syndrome · United States
- National Foundation for Ectodermal DysplasiasAnkyloblepharon-ectodermal defects-cleft lip/palate 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
- Children's Skin Disease FoundationSkin diseases · United States
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