Living with Cleft lip/palate-ectodermal dysplasia syndrome
A rare genetic condition, also called Zlotogora-Ogur syndrome, with cleft lip and palate and differences in hair, skin, and teeth.
Understanding Cleft lip/palate-ectodermal dysplasia syndrome
Features include differences in the hair, skin, and teeth, facial differences with cleft lip and palate, webbed fingers or toes (cutaneous syndactyly), and in some cases intellectual disability. GARD lists onset in the newborn period and infancy.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Cleft lip and palate
- Differences in teeth
- Sparse or missing eyebrows
- Underdeveloped cheekbones
- Differences in speech
- Underactive gonads (hypogonadism)
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, genetic specialists and skin, hair, and nail specialists.
- 3Consider genetic testing
Changes in NECTIN1 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
- Brain and nervous system specialists (neurologists); Ear, nose, and throat specialists (otolaryngologists); Genetic specialists (geneticists); Skin, hair, and nail specialists (dermatologists)
- 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 NECTIN1 gene cause this condition. It is autosomal recessive, so a child inherits a changed copy of the gene from each parent.
Also known as: cleft lip and cleft palate with ectodermal dysplasia syndrome; cleft lip and palate with syndactyly and pili torti; cleft lip/palate-syndactyly-pili torti syndrome; clped1; ectodermal dysplasia, margarita island type; ectodermal dysplasia, type 4
Patient organizations
- National Foundation for Ectodermal DysplasiasCleft lip/palate-ectodermal dysplasia 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
You are more than your diagnosis
Perspectives from people navigating life with Cleft lip/palate-ectodermal dysplasia syndrome.
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