Living with Craniosynostosis and dental anomalies
A rare genetic condition with early skull closure, a flat middle face, and late or extra teeth.
Understanding Craniosynostosis and dental anomalies
The early closure changes the shape of the head. People also have a flat middle face, delayed or misplaced teeth, and extra teeth. Facial features include bulging eyes, wide-set eyes, a beaked nose, and a relatively large lower jaw. Joined or curved fingers or toes, short stature, delays in thinking or movement, and hearing loss from the middle ear have also been reported. It starts in newborns and infants.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Early closure of skull bones (craniosynostosis)
- Late-coming and extra teeth
- Bad bite and dental crowding
- Bulging eyes (proptosis)
- Hearing loss from the middle ear
- Chiari malformation
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 gum, teeth and mouth specialists.
- 3Consider genetic testing
Changes in IL11RA 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
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); Gum, teeth and mouth specialists (odontologists)
- 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 FACES: The National Craniofacial Association 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
It is caused by changes in the IL11RA gene. It is autosomal recessive, meaning a child inherits a changed copy of the gene from each parent.
Also known as: craniosynostosis and dental anomalies syndrome; craniosynostosis-dental anomalies; crsda; kreiborg pakistani syndrome; kreiborg-pakistani syndrome
Patient organizations
- FACES: The National Craniofacial AssociationCraniosynostosis and dental anomalies · United States
- World Craniofacial FoundationCraniofacial anomalies · United States
- Children's Craniofacial AssociationCraniofacial anomalies · United States
- myFaceCraniofacial anomalies · United States
You are more than your diagnosis
Perspectives from people navigating life with Craniosynostosis and dental anomalies.
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