Living with Craniofrontonasal dysplasia-Poland anomaly syndrome
A rare syndrome with early skull bone closure, differences of the chest muscle, and genital and breast differences.
Understanding Craniofrontonasal dysplasia-Poland anomaly syndrome
It combines early closure of skull bones (craniosynostosis), Poland anomaly (underdeveloped chest and shoulder muscles on one side), craniofrontonasal dysplasia (differences of the skull, forehead, and nose), and genital and breast differences.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Early closure of skull bones (craniosynostosis)
- Underdeveloped shoulder muscles
- Small or missing nipples
- Cleft or groove in the nose
- Crossed eyes (strabismus)
- Genital differences
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, maternal-fetal medicine specialists and women’s reproductive health specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- Bone and joint specialists (orthopedists or orthopedic surgeons); Genetic specialists (geneticists); Maternal-fetal medicine specialists (pregnancy-related); Women’s reproductive health specialists (obstetricians / gynecologists)
- 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 rare disease patient organizations for support
- 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.
Also known as: craniofrontonasal dysplasia with poland anomaly syndrome; webster deming syndrome; webster-deming syndrome
Patient organizations
Rare-disease groups that can help
- 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 Craniofrontonasal dysplasia-Poland anomaly syndrome.
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