Living with Parietal foramina with cleidocranial dysplasia
A rare genetic bone condition with openings in the skull and short collarbones.
Understanding Parietal foramina with cleidocranial dysplasia
People have openings in the top and sides of the skull (parietal foramina) and short, underdeveloped collarbones. Some also have a large head, broad forehead, and mild facial differences. GARD says no dental problems were reported. Signs are seen in newborns and infants.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Openings in the skull bones (parietal foramina)
- Short collarbones
- Large head (macrocephaly)
- Wide, open soft spots in the skull
- Small ears
- Dermoid cyst (a skin cyst)
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.
- 3Consider genetic testing
Changes in MSX2 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)
- 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 Craniofacial Association
- 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 MSX2 gene cause this condition. It is autosomal dominant, which means one changed copy of the gene is enough to cause it.
Also known as: parietal foramina with clavicular hypoplasia; parietal foramina with cleidocranial dysostosis; pfmccd
Patient organizations
- Children's Craniofacial AssociationParietal foramina with cleidocranial dysplasia · United States
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