Overview
Craniosynostosis, Herrmann-Opitz type is an extremely rare genetic condition in which one or more of the joints (called sutures) between the bones of a baby's skull close too early, before the brain has fully grown. This premature fusion of skull bones is called craniosynostosis. In the Herrmann-Opitz type, craniosynostosis is accompanied by additional features that may include short stature, limb abnormalities (such as brachydactyly, meaning short fingers and toes), and sometimes intellectual disability or developmental delays. Facial features may appear unusual due to the abnormal skull shape, and some affected individuals may have other skeletal anomalies. This condition was first described by Herrmann and Opitz, and it is sometimes referred to as Herrmann-Opitz craniosynostosis syndrome. Because it is so rare, with only a handful of cases reported in the medical literature, much about this condition remains poorly understood. The treatment approach typically involves surgery to correct the skull fusion and relieve pressure on the growing brain, along with supportive therapies to address developmental or skeletal issues. A team of specialists including craniofacial surgeons, geneticists, and developmental pediatricians usually manages care. Early diagnosis and intervention are important to reduce the risk of complications such as increased pressure inside the skull, which can affect brain development.
Key symptoms:
Premature fusion of skull bones (craniosynostosis)Abnormal head shapeShort statureShort fingers and toes (brachydactyly)Developmental delaysIntellectual disabilityUnusual facial featuresSkeletal abnormalitiesPossible increased pressure inside the skullLimb anomalies
Clinical phenotype terms (24)— hover any for plain English
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for Craniosynostosis, Herrmann-Opitz type.
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Specialists
View all specialists →No specialists are currently listed for Craniosynostosis, Herrmann-Opitz type.
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 Craniosynostosis, Herrmann-Opitz type.
Community
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Caregiver Resources
NORD Caregiver Resources
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Mental Health Support
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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 is my child's craniosynostosis, and when should surgery be done?,What type of surgery is recommended, and what are the risks?,Will my child need more than one surgery as they grow?,What developmental therapies should we start, and how soon?,Is genetic testing available to confirm the specific diagnosis?,What signs of complications should I watch for at home?,Are there other family members who should be tested or evaluated?
Common questions about Craniosynostosis, Herrmann-Opitz type
What is Craniosynostosis, Herrmann-Opitz type?
Craniosynostosis, Herrmann-Opitz type is an extremely rare genetic condition in which one or more of the joints (called sutures) between the bones of a baby's skull close too early, before the brain has fully grown. This premature fusion of skull bones is called craniosynostosis. In the Herrmann-Opitz type, craniosynostosis is accompanied by additional features that may include short stature, limb abnormalities (such as brachydactyly, meaning short fingers and toes), and sometimes intellectual disability or developmental delays. Facial features may appear unusual due to the abnormal skull shap
How is Craniosynostosis, Herrmann-Opitz type inherited?
Craniosynostosis, Herrmann-Opitz type follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Craniosynostosis, Herrmann-Opitz type typically begin?
Typical onset of Craniosynostosis, Herrmann-Opitz type is neonatal. Age of onset can vary across affected individuals.