Living with Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome
A rare genetic syndrome from birth with large, low-count platelets, swelling, developmental delay, and distinct facial features.
Understanding Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome
It involves delays in development, intellectual disability, large platelets with a low platelet count, and swelling from lymph fluid (lymphedema). GARD also lists unusual facial features and, in some people, problems of the heart, kidneys, hearing, eyes, bones, and immune system. Brain scans may show differences.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Intellectual disability
- Low platelet count with large platelets
- Unusual facial shape
- Slow growth in childhood
- Scoliosis (curved spine)
- Repeated infections
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 blood and bone marrow specialists, brain and nervous system specialists, genetic specialists and skin, hair, and nail specialists.
- 3Consider genetic testing
Changes in CDC42 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
- Blood and bone marrow specialists (hematologists); Brain and nervous system specialists (neurologists); Genetic specialists (geneticists); Skin, hair, and nail specialists (dermatologists)
- 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 Children's Skin Disease 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 CDC42 gene cause this condition. It is inherited in an autosomal dominant way, so a change in one copy of the gene can be enough to cause it.
Also known as: macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome; takenouchi kosaki syndrome; takenouchi-kosaki syndrome
Patient organizations
- Children's Skin Disease FoundationSkin diseases · 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 Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome.
Explore research for Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome
Explore actively recruiting Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome studies with HealthSpark.
Find actively recruiting studies for Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly 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 Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly 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 Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly 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 Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly 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.