Living with CBL-related disorder
A genetic condition with features like Noonan syndrome and a higher chance of a childhood blood disorder called JMML.
Understanding CBL-related disorder
Features can include facial differences, developmental delay, low muscle tone, and a small head. Some people have heart defects, skin and hair differences, or short stature. The Noonan-like features can be subtle. It begins in the newborn and infant years.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Small head (microcephaly)
- Broad forehead
- Delayed speech and language
- Loose joints (joint hypermobility)
- Drooping upper eyelid (ptosis)
- Light brown skin spots (cafe-au-lait spots)
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, brain and nervous system specialists, cancer specialists and genetic specialists.
- 3Consider genetic testing
Changes in CBL 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
Children's Cardiomyopathy Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Bone and joint specialists (orthopedists or orthopedic surgeons); Brain and nervous system specialists (neurologists); Cancer specialists (oncologists); Genetic specialists (geneticists)
- Expert care
- Expert lists: Children's Cardiomyopathy 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 Children's Cardiomyopathy Foundation
- 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 CBL gene cause this condition. It is inherited in an autosomal dominant way, so one changed copy of the gene can cause it.
Also known as: cbl mutation-associated syndrome; cbl syndrome; noonan syndrome-like disorder with jmml; noonan syndrome-like disorder with juvenile myelomonocytic leukaemia; noonan syndrome-like disorder with juvenile myelomonocytic leukemia; noonan syndrome-like disorder without juvenile myelomonocytic leukemia
Patient organizations
- Children's Cardiomyopathy FoundationCardiomyopathy · United States
Broader rare-disease groups
- 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 CBL-related disorder.
Explore research for CBL-related disorder
Explore actively recruiting CBL-related disorder studies with HealthSpark.
Find actively recruiting studies for CBL-related disorder 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 CBL-related disorder 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 CBL-related disorder
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 CBL-related disorder 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.