Overview
Craniofrontonasal dysplasia-Poland anomaly syndrome is an extremely rare condition that combines features of two separate birth defect patterns. Craniofrontonasal dysplasia affects the development of the skull, face, and nasal structures, while Poland anomaly involves underdevelopment or absence of chest muscles (usually the pectoralis major) on one side of the body, sometimes along with hand abnormalities on the same side. Together, this syndrome can cause a wide-spaced appearance of the eyes (hypertelorism), a broad or split nasal tip, a groove running down the middle of the nose, asymmetry of the face, and abnormal skull shape including premature fusion of skull bones (craniosynostosis). On the chest wall side, patients may have missing or underdeveloped chest muscles, shorter or webbed fingers, and sometimes breast asymmetry. The severity of symptoms varies widely from person to person. Because this condition is so rare, treatment is tailored to each individual and typically involves a team of specialists. Surgery may be needed to correct skull shape, improve facial symmetry, or reconstruct the chest wall and hand. There is no single cure, so management focuses on addressing each symptom as it arises. Early diagnosis and coordinated care can significantly improve quality of life and functional outcomes.
Also known as:
Key symptoms:
Wide-set eyesBroad or split nasal tipGroove down the middle of the nosePremature fusion of skull bones (craniosynostosis)Asymmetric faceAbsent or underdeveloped chest muscle on one sideShort or webbed fingers on one handBreast asymmetryThick, wiry or curly hairUnibrow or heavy eyebrowsAbnormal shape of the headShoulder or arm asymmetryPossible mild learning difficulties in some cases
Clinical phenotype terms (26)— hover any for plain English
Variable
Can be inherited in different ways depending on the underlying gene
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for Craniofrontonasal dysplasia-Poland anomaly syndrome.
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Specialists
View all specialists →No specialists are currently listed for Craniofrontonasal dysplasia-Poland anomaly syndrome.
Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to Craniofrontonasal dysplasia-Poland anomaly syndrome.
Community
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Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
Rare disease caregiving can be isolating. Connect with counseling and peer support.
Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
Social Security Disability
Learn how rare disease patients may qualify for SSDI/SSI benefits.
Questions for your doctor
Bring these to your next appointment
- Q1.How severe are my child's skull bone fusions, and will surgery be needed?,What is the recommended timeline for any surgical procedures?,How will the Poland anomaly affect my child's hand function and physical abilities?,Should we pursue genetic testing, and what will the results tell us about recurrence risk in future pregnancies?,What specialists should be part of our care team?,Are there any signs or symptoms I should watch for that would need urgent attention?,What support services are available for emotional and psychological well-being?
Common questions about Craniofrontonasal dysplasia-Poland anomaly syndrome
What is Craniofrontonasal dysplasia-Poland anomaly syndrome?
Craniofrontonasal dysplasia-Poland anomaly syndrome is an extremely rare condition that combines features of two separate birth defect patterns. Craniofrontonasal dysplasia affects the development of the skull, face, and nasal structures, while Poland anomaly involves underdevelopment or absence of chest muscles (usually the pectoralis major) on one side of the body, sometimes along with hand abnormalities on the same side. Together, this syndrome can cause a wide-spaced appearance of the eyes (hypertelorism), a broad or split nasal tip, a groove running down the middle of the nose, asymmetry
At what age does Craniofrontonasal dysplasia-Poland anomaly syndrome typically begin?
Typical onset of Craniofrontonasal dysplasia-Poland anomaly syndrome is neonatal. Age of onset can vary across affected individuals.