Living with Contractures-ectodermal dysplasia-cleft lip/palate syndrome
A rare genetic syndrome with stiff joints, hair, skin, and teeth differences, and a cleft lip or palate from birth.
Understanding Contractures-ectodermal dysplasia-cleft lip/palate syndrome
It includes severe joint contractures (arthrogryposis), a cleft lip or palate, and slower growth. Hair can be sparse and brittle, teeth can be small and cone-shaped or missing, and the skin can be dry. Facial features include narrow eyelid openings, deep-set eyes, and a small jaw. There is a moderate delay in development. It starts at birth.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Stiff joints from birth (arthrogryposis)
- Cleft palate or cleft lip
- Less sweating (hypohidrosis)
- Global developmental delay
- Limited joint movement
- Changes in tear production
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.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
- 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
- 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: 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
GARD says changes in genes cause this condition. It doesn't name a gene. Inheritance may be autosomal recessive (a changed copy from each parent) or X-linked.
Also known as: arthrogryposis, ectodermal dysplasia, cleft lip/palate, and developmental delay; ladda-zonana-ramer syndrome
Patient organizations
- American Cleft Palate Craniofacial AssociationContractures-ectodermal dysplasia-cleft lip/palate syndrome · United States
- National Foundation for Ectodermal DysplasiasContractures-ectodermal dysplasia-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
You are more than your diagnosis
Perspectives from people navigating life with Contractures-ectodermal dysplasia-cleft lip/palate syndrome.
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