Living with Craniomicromelic syndrome
A rare syndrome with slow growth before birth, soft spots on the skull that stay open, short limbs, and joined fingers and toes.
Understanding Craniomicromelic syndrome
Features include slow growth before birth, a skull that is poorly hardened with large soft spots, short limbs with missing finger or toe bones, and joined fingers and toes. Facial features can include a narrow face, small eye openings, a small pointed nose, a small mouth, a small jaw, and low-set ears. A bulge of brain tissue at the back of the head (posterior encephalocele) and other differences can also occur. It starts in newborns and infants.
Signs & symptoms
GARD doesn't list specific symptoms for this condition yet. Its summary mentions these:
- Slow growth before birth
- Poorly hardened skull with large soft spots
- Short limbs
- Joined fingers and toes (syndactyly)
- Small jaw (micrognathia)
- 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 and genetic specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
- 4Connect with expert centers
World Craniofacial Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Bone and joint specialists (orthopedists or orthopedic surgeons); Genetic specialists (geneticists)
- Expert care
- Expert lists: 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 Human Growth Foundation 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.
Patient organizations
- Human Growth FoundationCraniomicromelic syndrome · United States
- The MAGIC FoundationCraniomicromelic 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
You are more than your diagnosis
Perspectives from people navigating life with Craniomicromelic syndrome.
Explore research for Craniomicromelic syndrome
Explore actively recruiting Craniomicromelic syndrome studies with HealthSpark.
Find actively recruiting studies for Craniomicromelic 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 Craniomicromelic 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 Craniomicromelic 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 Craniomicromelic 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.