Overview
Craniofacial dysostosis-arthrogryposis-progeroid appearance syndrome is an extremely rare genetic condition that was previously listed as a distinct disorder but has since been marked as obsolete in medical databases, meaning it may have been reclassified or merged with another recognized condition. The original description of this syndrome involved a combination of abnormal development of the skull and facial bones (craniofacial dysostosis), stiff or locked joints present from birth (arthrogryposis), and a facial appearance that looks prematurely aged (progeroid features). Affected individuals were noted to have distinctive facial features, limited joint movement, and skin changes that gave an older-looking appearance even in infancy or early childhood. Because this condition is obsolete in current classification systems, patients who were previously diagnosed with this syndrome may now fall under a different or updated diagnostic category. Very little published medical literature exists on this specific condition, and the exact genetic cause, inheritance pattern, and optimal management remain poorly defined. Families affected by this condition should work closely with a clinical geneticist to determine whether a more current diagnosis applies and to guide appropriate care and genetic counseling.
Key symptoms:
Abnormal shape of the skull and facial bonesStiff or locked joints at birthAged or old-looking facial appearance in a young childLimited range of motion in arms and legsUnusual facial featuresThin or wrinkled skinGrowth delaysSmall head sizeFeeding difficulties in infancyPossible developmental delays
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 OBSOLETE: Craniofacial dysostosis-arthrogryposis-progeroid appearance syndrome.
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Specialists
View all specialists →No specialists are currently listed for OBSOLETE: Craniofacial dysostosis-arthrogryposis-progeroid appearance 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 OBSOLETE: Craniofacial dysostosis-arthrogryposis-progeroid appearance 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.Since this diagnosis is now considered obsolete, what is the most current diagnosis that fits my child's symptoms?,Would whole exome or whole genome sequencing help identify the exact genetic cause?,What specialists should be part of my child's care team?,Are there any specific complications we should watch for as my child grows?,What therapies are recommended to help with joint stiffness and mobility?,Is there a risk of this condition occurring again in future pregnancies?,Are there any clinical trials or research studies that might be relevant?
Common questions about OBSOLETE: Craniofacial dysostosis-arthrogryposis-progeroid appearance syndrome
What is OBSOLETE: Craniofacial dysostosis-arthrogryposis-progeroid appearance syndrome?
Craniofacial dysostosis-arthrogryposis-progeroid appearance syndrome is an extremely rare genetic condition that was previously listed as a distinct disorder but has since been marked as obsolete in medical databases, meaning it may have been reclassified or merged with another recognized condition. The original description of this syndrome involved a combination of abnormal development of the skull and facial bones (craniofacial dysostosis), stiff or locked joints present from birth (arthrogryposis), and a facial appearance that looks prematurely aged (progeroid features). Affected individual
At what age does OBSOLETE: Craniofacial dysostosis-arthrogryposis-progeroid appearance syndrome typically begin?
Typical onset of OBSOLETE: Craniofacial dysostosis-arthrogryposis-progeroid appearance syndrome is neonatal. Age of onset can vary across affected individuals.