Overview
Spondylocostal dysostosis-hypospadias-intellectual disability syndrome was a very rare condition that has since been reclassified (marked as 'OBSOLETE' in medical databases like Orphanet). This means that the medical community no longer considers it a distinct, separate syndrome. It may have been merged into a broader category of spondylocostal dysostosis or reclassified under a different diagnosis as scientific understanding improved. When it was described, this condition involved a combination of three main features: spondylocostal dysostosis (abnormal development of the bones of the spine and ribs), hypospadias (a birth defect in males where the opening of the urethra is not at the tip of the penis), and intellectual disability. The spine and rib abnormalities could lead to a short trunk, abnormal curvature of the spine, and breathing difficulties due to a small chest. Intellectual disability varied in severity. Because this entry is now obsolete, patients and families who were previously given this diagnosis should consult with a clinical geneticist to determine the most current and accurate diagnosis. Updated genetic testing methods may help clarify the underlying cause and guide appropriate management. Treatment was generally supportive, focusing on orthopedic care for spinal issues, surgical correction of hypospadias, respiratory support if needed, and educational and developmental support for intellectual disability.
Key symptoms:
Abnormal shape or formation of the spine bonesAbnormal rib development or missing ribsShort trunk compared to limbsCurved spine (scoliosis or kyphosis)Small or narrow chestBreathing difficultiesHypospadias (abnormal opening of the urethra in males)Intellectual disability or learning difficultiesDelayed developmental milestonesShort stature
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: Spondylocostal dysostosis-hypospadias-intellectual disability syndrome.
View clinical trials →Clinical Trials
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Specialists
View all specialists →No specialists are currently listed for OBSOLETE: Spondylocostal dysostosis-hypospadias-intellectual disability 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: Spondylocostal dysostosis-hypospadias-intellectual disability 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
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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.Since this diagnosis is now obsolete, what is the most current and accurate diagnosis for my child's condition?,Should we pursue updated genetic testing such as whole exome sequencing?,How severe are the spine and rib abnormalities, and will surgery be needed?,What respiratory monitoring or support does my child need?,When should hypospadias surgery be performed?,What developmental therapies and educational supports should we start?,Are there any clinical trials or research studies we should consider?
Common questions about OBSOLETE: Spondylocostal dysostosis-hypospadias-intellectual disability syndrome
What is OBSOLETE: Spondylocostal dysostosis-hypospadias-intellectual disability syndrome?
Spondylocostal dysostosis-hypospadias-intellectual disability syndrome was a very rare condition that has since been reclassified (marked as 'OBSOLETE' in medical databases like Orphanet). This means that the medical community no longer considers it a distinct, separate syndrome. It may have been merged into a broader category of spondylocostal dysostosis or reclassified under a different diagnosis as scientific understanding improved. When it was described, this condition involved a combination of three main features: spondylocostal dysostosis (abnormal development of the bones of the spine
At what age does OBSOLETE: Spondylocostal dysostosis-hypospadias-intellectual disability syndrome typically begin?
Typical onset of OBSOLETE: Spondylocostal dysostosis-hypospadias-intellectual disability syndrome is neonatal. Age of onset can vary across affected individuals.