Overview
X-linked Opitz G/BBB syndrome is a genetic condition that primarily affects males and is caused by changes in the MID1 gene on the X chromosome. The term 'OBSOLETE' in the official name means this entry has been reclassified or merged with a broader category called Opitz G/BBB syndrome, which can be caused by mutations in different genes. However, the X-linked form specifically involves the MID1 gene. This condition affects the development of midline structures of the body — meaning parts of the body that form along the center line. Key features include widely spaced eyes (hypertelorism), difficulty swallowing (dysphagia), voice or breathing problems due to a gap in the voice box (laryngotracheoesophageal cleft), and genital abnormalities such as hypospadias in males. Some individuals may also have a cleft lip or palate, heart defects, and mild to moderate intellectual disability. Treatment is based on managing individual symptoms. Surgery may be needed for cleft lip or palate, heart defects, hypospadias, or airway problems. Speech therapy, feeding support, and developmental services are often part of the care plan. With appropriate medical management, many individuals lead fulfilling lives, though the severity of the condition varies widely from person to person.
Also known as:
Key symptoms:
Widely spaced eyesDifficulty swallowingBreathing problems due to airway abnormalitiesWeak or hoarse cry in infantsCleft lip or cleft palateOpening on the underside of the penis (hypospadias)Heart defects present at birthMild to moderate intellectual disabilityDevelopmental delaysUndescended testiclesImperforate anus or anal abnormalitiesFeeding difficulties in infancyNasal voice qualityLow muscle tone
X-linked recessive
Carried on the X chromosome; typically affects males more than females
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for OBSOLETE: X-linked Opitz G/BBB syndrome.
View clinical trials →Clinical Trials
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Specialists
View all specialists →No specialists are currently listed for OBSOLETE: X-linked Opitz G/BBB 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: X-linked Opitz G/BBB 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.What specific features of the syndrome does my child have, and how severe are they?,Will my child need surgery, and if so, what is the recommended timing?,What developmental milestones should I watch for, and when should I be concerned?,Should other family members be tested for the MID1 gene change?,What therapies (speech, feeding, developmental) should we start and when?,Are there any heart or airway problems that need ongoing monitoring?,What is the chance of this condition occurring in future pregnancies?
Common questions about OBSOLETE: X-linked Opitz G/BBB syndrome
What is OBSOLETE: X-linked Opitz G/BBB syndrome?
X-linked Opitz G/BBB syndrome is a genetic condition that primarily affects males and is caused by changes in the MID1 gene on the X chromosome. The term 'OBSOLETE' in the official name means this entry has been reclassified or merged with a broader category called Opitz G/BBB syndrome, which can be caused by mutations in different genes. However, the X-linked form specifically involves the MID1 gene. This condition affects the development of midline structures of the body — meaning parts of the body that form along the center line. Key features include widely spaced eyes (hypertelorism), dif
How is OBSOLETE: X-linked Opitz G/BBB syndrome inherited?
OBSOLETE: X-linked Opitz G/BBB syndrome follows a x-linked recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does OBSOLETE: X-linked Opitz G/BBB syndrome typically begin?
Typical onset of OBSOLETE: X-linked Opitz G/BBB syndrome is neonatal. Age of onset can vary across affected individuals.