Overview
Autosomal dominant Opitz G/BBB syndrome is a term that was previously used to describe a genetic condition affecting the development of several body structures along the midline of the body. This entry is now considered obsolete because research has shown that what was once thought to be an autosomal dominant form of Opitz G/BBB syndrome is actually caused by changes in the MID1 gene on the X chromosome, making it X-linked. The condition is now more accurately classified as X-linked Opitz G/BBB syndrome (also called Opitz syndrome, Opitz-Frias syndrome, or G syndrome). Some families previously labeled as autosomal dominant may instead have a related condition called 22q11.2 deletion syndrome (DiGeorge/velocardiofacial syndrome), which can cause overlapping features. The hallmark features of Opitz G/BBB syndrome include widely spaced eyes (hypertelorism), difficulty swallowing, voice or breathing problems due to a gap in the voice box (laryngotracheoesophageal cleft), and genital abnormalities in males such as hypospadias. Some individuals may also have heart defects, cleft lip or palate, intellectual disability, and developmental delays. The severity varies widely, even within the same family. Treatment is largely supportive and may include surgery for structural abnormalities, speech therapy, feeding support, and developmental interventions. Because this classification is obsolete, patients and families should work with a geneticist to clarify whether their condition is X-linked Opitz G/BBB syndrome or 22q11.2 deletion syndrome, as the management and genetic counseling differ.
Also known as:
Key symptoms:
Widely spaced eyes (hypertelorism)Difficulty swallowing or feeding problemsBreathing difficulties due to abnormal voice box or windpipeHoarse or weak cry in infantsOpening on the underside of the penis (hypospadias) in malesCleft lip or cleft palateHeart defects present at birthIntellectual disability (variable severity)Developmental delaysUndescended testicles in malesImperforate anus or other anal abnormalitiesKidney or urinary tract abnormalitiesLow muscle toneSpeech and language 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: Autosomal dominant Opitz G/BBB syndrome.
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Specialists
View all specialists →No specialists are currently listed for OBSOLETE: Autosomal dominant 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: Autosomal dominant Opitz G/BBB syndrome.
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Caregiver Resources
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Questions for your doctor
Bring these to your next appointment
- Q1.Has genetic testing confirmed whether this is X-linked Opitz G/BBB syndrome or 22q11.2 deletion syndrome?,What specific midline defects does my child have, and which ones need surgical repair?,Are there any heart or airway abnormalities that need immediate attention?,What developmental therapies should we start, and how soon?,What is the risk of this condition occurring again in future pregnancies?,What specialists should be part of our care team?,Are there any clinical trials or research studies we should know about?
Common questions about OBSOLETE: Autosomal dominant Opitz G/BBB syndrome
What is OBSOLETE: Autosomal dominant Opitz G/BBB syndrome?
Autosomal dominant Opitz G/BBB syndrome is a term that was previously used to describe a genetic condition affecting the development of several body structures along the midline of the body. This entry is now considered obsolete because research has shown that what was once thought to be an autosomal dominant form of Opitz G/BBB syndrome is actually caused by changes in the MID1 gene on the X chromosome, making it X-linked. The condition is now more accurately classified as X-linked Opitz G/BBB syndrome (also called Opitz syndrome, Opitz-Frias syndrome, or G syndrome). Some families previously
At what age does OBSOLETE: Autosomal dominant Opitz G/BBB syndrome typically begin?
Typical onset of OBSOLETE: Autosomal dominant Opitz G/BBB syndrome is neonatal. Age of onset can vary across affected individuals.