Overview
Craniofaciocervical osteoglyphic dysplasia is an extremely rare skeletal disorder that has been described in the medical literature under this name, though it is now considered an obsolete or outdated classification. The term 'osteoglyphic' refers to a pattern of unusual grooves or furrows seen in bones on X-ray imaging. This condition primarily affects the bones of the skull (cranio-), face (facio-), and neck (cervical) region, leading to abnormal bone development and structure in these areas. Patients may show unusual facial features, abnormalities in the shape of the skull, and changes in the cervical spine. Because this diagnosis is obsolete, it is possible that cases originally described under this name have since been reclassified under a different or more precisely defined skeletal dysplasia as genetic and clinical understanding has advanced. Very few cases have been reported in the medical literature, making it difficult to fully characterize the natural history, inheritance, and optimal management. Patients who were previously given this diagnosis should work closely with a clinical geneticist and skeletal dysplasia specialist to determine whether a more current and specific diagnosis applies to their condition. Treatment has generally been supportive and symptom-based, focusing on managing skeletal complications and monitoring for any progression of bone abnormalities.
Also known as:
Key symptoms:
Unusual shape of the skullAbnormal facial featuresNeck or cervical spine abnormalitiesGrooved or furrowed appearance of bones on X-rayThickening or hardening of certain bonesShort stature or growth delaysLimited neck movementDental abnormalities
Childhood
Begins in childhood, roughly ages 1 to 12
Treatments
No FDA-approved treatments are currently listed for OBSOLETE: Craniofaciocervical osteoglyphic dysplasia.
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Specialists
View all specialists →No specialists are currently listed for OBSOLETE: Craniofaciocervical osteoglyphic dysplasia.
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 OBSOLETE: Craniofaciocervical osteoglyphic dysplasia.
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Caregiver Resources
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Family & Caregiver Grants
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Social Security Disability
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Questions for your doctor
Bring these to your next appointment
- Q1.Is this diagnosis still considered accurate, or should we pursue modern genetic testing to get a more specific diagnosis?,What imaging studies should be done regularly to monitor for changes in the skull, face, and neck bones?,Are there any signs of spinal cord compression that I should watch for at home?,Would whole exome or whole genome sequencing help identify the underlying cause?,Are there any restrictions on physical activities due to cervical spine involvement?,Should other family members be evaluated or tested?,Can you refer us to a center that specializes in skeletal dysplasias for a second opinion?
Common questions about OBSOLETE: Craniofaciocervical osteoglyphic dysplasia
What is OBSOLETE: Craniofaciocervical osteoglyphic dysplasia?
Craniofaciocervical osteoglyphic dysplasia is an extremely rare skeletal disorder that has been described in the medical literature under this name, though it is now considered an obsolete or outdated classification. The term 'osteoglyphic' refers to a pattern of unusual grooves or furrows seen in bones on X-ray imaging. This condition primarily affects the bones of the skull (cranio-), face (facio-), and neck (cervical) region, leading to abnormal bone development and structure in these areas. Patients may show unusual facial features, abnormalities in the shape of the skull, and changes in t
At what age does OBSOLETE: Craniofaciocervical osteoglyphic dysplasia typically begin?
Typical onset of OBSOLETE: Craniofaciocervical osteoglyphic dysplasia is childhood. Age of onset can vary across affected individuals.