Living with Endocrine-cerebro-osteodysplasia syndrome
A rare genetic condition affecting hormone glands, the brain, and the bones, present from birth.
Understanding Endocrine-cerebro-osteodysplasia syndrome
GARD describes many differences in the hormone glands, brain, and skeleton. Signs are seen in newborns and infants. They can include facial differences such as cleft lip or palate, bowed limb bones, and differences in how the brain formed.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Cleft lip or cleft palate
- Bowed bones in the arms and legs
- Eyes set close together (hypotelorism)
- Small lower jaw (micrognathia)
- Brain differences such as holoprosencephaly
- Low-set ears
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, genetic specialists and hormone specialists.
- 3Consider genetic testing
Changes in CILK1 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
Care & treatment
- Care team
- Bone and joint specialists (orthopedists or orthopedic surgeons); Genetic specialists (geneticists); Hormone specialists (endocrinologists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- 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 rare disease patient organizations for support
- 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 CILK1 gene cause this condition. It is autosomal recessive, which means a child inherits a changed copy of the gene from each parent.
Also known as: eco syndrome
Patient organizations
Rare-disease groups that can help
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Endocrine-cerebro-osteodysplasia syndrome.
Explore research for Endocrine-cerebro-osteodysplasia syndrome
Explore actively recruiting Endocrine-cerebro-osteodysplasia syndrome studies with HealthSpark.
Find actively recruiting studies for Endocrine-cerebro-osteodysplasia 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 Endocrine-cerebro-osteodysplasia 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 Endocrine-cerebro-osteodysplasia 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 Endocrine-cerebro-osteodysplasia 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.