Living with Craniofacial dysplasia - osteopenia syndrome
A rare genetic condition with distinct facial features, weak bones that break often, and hearing and vision problems.
Understanding Craniofacial dysplasia - osteopenia syndrome
Weak bones (osteopenia) lead to repeated fractures of the long bones. People also have severe nearsightedness, mild to moderate hearing loss, enamel problems in the teeth, sloping shoulders, and mild intellectual disability. Facial features include a prominent forehead, very wide-set eyes, and a small jaw. It starts in newborns and infants.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Weak bones and repeated fractures
- Intellectual disability
- Global developmental delay
- Early closure of skull bones (craniosynostosis)
- Missing teeth and bad bite
- Low parathyroid hormone (hypoparathyroidism)
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, eye disease specialists and genetic specialists.
- 3Consider genetic testing
Changes in IRX5 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); Brain and nervous system specialists (neurologists); Eye disease specialists (ophthalmologists); 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 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 IRX5 gene. It is autosomal recessive, meaning a child inherits a changed copy of the gene from each parent.
Also known as: craniofacial dysplasia osteopenia syndrome; facial dysmorphism-ocular anomalies-osteopenia-intellectual disability-dental anomalies syndrome; hamamy syndrome
Patient organizations
- Children's Craniofacial AssociationCraniofacial dysplasia - osteopenia syndrome · United States
- FACES: The National Craniofacial AssociationCraniofacial dysplasia - osteopenia syndrome · United States
You are more than your diagnosis
Perspectives from people navigating life with Craniofacial dysplasia - osteopenia syndrome.
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