Living with Cranioectodermal dysplasia
A genetic condition affecting bones and tissues such as skin, hair, nails, and teeth, and sometimes the kidneys.
Understanding Cranioectodermal dysplasia
Common features include a prominent forehead and a long, narrow head from early closure of skull bones, short limbs, short stature, and short fingers. Some people have short ribs and a narrow chest that can cause breathing trouble in newborns. Hair may be sparse, teeth small or missing, nails short, and skin loose. Many people have a kidney disorder called nephronophthisis. Features vary, even within a family.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Early closure of skull bones (craniosynostosis)
- Prominent forehead
- Short limbs
- Small or missing teeth
- Short fingers and nail changes
- Narrow chest
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, eye disease specialists, genetic specialists and kidney specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
- 4Connect with expert centers
Little People of America, 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); Eye disease specialists (ophthalmologists); Genetic specialists (geneticists); Kidney specialists (nephrologists)
- Expert care
- Expert lists: Little People of America, 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 Little People of America 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 is autosomal recessive, meaning a child inherits a changed copy of the gene from each parent. GARD doesn't name a gene.
Also known as: ced; cranioectoderma; levin syndrome; sensenbrenner syndrome; sensenbrenner's syndrome
Patient organizations
- Little People of AmericaCranioectodermal dysplasia · United States
- National Foundation for Ectodermal DysplasiasCranioectodermal dysplasia · 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
You are more than your diagnosis
Perspectives from people navigating life with Cranioectodermal dysplasia.
Explore research for Cranioectodermal dysplasia
Explore actively recruiting Cranioectodermal dysplasia studies with HealthSpark.
Find actively recruiting studies for Cranioectodermal dysplasia 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 Cranioectodermal dysplasia 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 Cranioectodermal dysplasia
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 Cranioectodermal dysplasia 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.