Overview
Myopathy-growth delay-intellectual disability-hypospadias syndrome is an extremely rare condition that has been described in only a very small number of individuals in the medical literature. This condition is now classified as 'obsolete' in the Orphanet database, meaning it may have been reclassified, merged with another diagnosis, or found to not represent a distinct syndrome. The original description included a combination of muscle weakness (myopathy), slower than expected physical growth (growth delay), intellectual disability, and hypospadias (a birth defect where the opening of the urethra is on the underside of the penis rather than at the tip). Affected individuals were noted to have problems with muscle strength and tone from early in life, along with delays in reaching developmental milestones such as sitting, walking, and talking. Because this syndrome designation is now considered obsolete, patients who were previously given this diagnosis may benefit from re-evaluation with modern genetic testing to determine if a more specific or updated diagnosis can be identified. There is no specific targeted treatment for this condition; management has historically focused on addressing each symptom individually through supportive therapies such as physical therapy, special education services, and surgical correction of hypospadias.
Key symptoms:
Muscle weaknessLow muscle toneSlower physical growth than expectedShort statureIntellectual disabilityDelayed speech and language developmentDelayed motor milestones such as walkingHypospadias (abnormal opening of the urethra in males)Learning difficultiesFeeding difficulties in infancy
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for OBSOLETE: Myopathy-growth delay-intellectual disability-hypospadias syndrome.
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Specialists
View all specialists →No specialists are currently listed for OBSOLETE: Myopathy-growth delay-intellectual disability-hypospadias 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: Myopathy-growth delay-intellectual disability-hypospadias 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.Has modern genetic testing been done to look for a more specific diagnosis?,What type of muscle disease does my child have, and how might it change over time?,What therapies are recommended to support my child's development?,When should hypospadias surgery be performed, and what is the expected outcome?,Should my child be evaluated for growth hormone deficiency?,Are there any clinical trials or research studies that might be relevant?,What is the chance that future children could be affected?
Common questions about OBSOLETE: Myopathy-growth delay-intellectual disability-hypospadias syndrome
What is OBSOLETE: Myopathy-growth delay-intellectual disability-hypospadias syndrome?
Myopathy-growth delay-intellectual disability-hypospadias syndrome is an extremely rare condition that has been described in only a very small number of individuals in the medical literature. This condition is now classified as 'obsolete' in the Orphanet database, meaning it may have been reclassified, merged with another diagnosis, or found to not represent a distinct syndrome. The original description included a combination of muscle weakness (myopathy), slower than expected physical growth (growth delay), intellectual disability, and hypospadias (a birth defect where the opening of the uret
At what age does OBSOLETE: Myopathy-growth delay-intellectual disability-hypospadias syndrome typically begin?
Typical onset of OBSOLETE: Myopathy-growth delay-intellectual disability-hypospadias syndrome is neonatal. Age of onset can vary across affected individuals.