Overview
Shoulder and girdle defects-familial intellectual disability syndrome is an extremely rare genetic condition that was historically described in a small number of families. This condition is now classified as 'OBSOLETE' in the Orphanet database (code 2580), meaning it may have been reclassified, merged with another diagnosis, or its original description may no longer be considered a distinct syndrome based on updated medical knowledge. As originally described, this syndrome involved abnormalities of the shoulder area and the pelvic or shoulder girdle (the bony structures that connect the arms and legs to the trunk of the body), combined with intellectual disability that ran in families. Affected individuals may have had underdeveloped or abnormally shaped shoulder bones, limited range of motion in the shoulders, and varying degrees of learning difficulties or developmental delays. Because this condition is now considered obsolete, patients and families who were previously given this diagnosis should consult with a clinical geneticist to determine whether a more current and specific diagnosis applies. Advances in genetic testing, particularly whole exome and whole genome sequencing, have allowed many previously grouped conditions to be reclassified into more precise diagnoses. Treatment would have been supportive, focusing on physical therapy for skeletal issues and educational support for intellectual disability.
Key symptoms:
Abnormal shoulder bone developmentShoulder girdle defectsPelvic girdle abnormalitiesIntellectual disabilityLimited shoulder movementDevelopmental delaysLearning difficultiesSkeletal abnormalities of the upper body
Variable
Can be inherited in different ways depending on the underlying gene
Childhood
Begins in childhood, roughly ages 1 to 12
Treatments
No FDA-approved treatments are currently listed for OBSOLETE: Shoulder and girdle defects-familial intellectual disability syndrome.
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Specialists
View all specialists →No specialists are currently listed for OBSOLETE: Shoulder and girdle defects-familial 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: Shoulder and girdle defects-familial intellectual disability syndrome.
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.Since this diagnosis is now considered obsolete, what updated genetic testing should we pursue to find a more specific diagnosis?,Are there any newer conditions that match our symptoms more precisely?,What therapies are available to improve shoulder and arm function?,What educational and developmental support services should we access?,Is genetic counseling recommended for family planning purposes?,Are there any clinical trials or research studies we should consider?,How often should we schedule follow-up appointments with specialists?
Common questions about OBSOLETE: Shoulder and girdle defects-familial intellectual disability syndrome
What is OBSOLETE: Shoulder and girdle defects-familial intellectual disability syndrome?
Shoulder and girdle defects-familial intellectual disability syndrome is an extremely rare genetic condition that was historically described in a small number of families. This condition is now classified as 'OBSOLETE' in the Orphanet database (code 2580), meaning it may have been reclassified, merged with another diagnosis, or its original description may no longer be considered a distinct syndrome based on updated medical knowledge. As originally described, this syndrome involved abnormalities of the shoulder area and the pelvic or shoulder girdle (the bony structures that connect the arms
At what age does OBSOLETE: Shoulder and girdle defects-familial intellectual disability syndrome typically begin?
Typical onset of OBSOLETE: Shoulder and girdle defects-familial intellectual disability syndrome is childhood. Age of onset can vary across affected individuals.