Opitz G/BBB syndrome
Findings
No curated finding names Opitz G/BBB syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Opitz G/BBB syndrome (OS) is a multiple congenital anomalies disorder characterized by malformations of the midline including hypertelorism, laryngo-tracheo-esophalgeal defects and hypospadias. There are two clinically indistinguishable genetic subtypes of Opitz G/BBB: X-linked Opitz G/BBB syndrome (XLOS), and autosomal dominant Opitz G/BBB syndrome (ADOS).
Definition from the Mondo Disease Ontology (MONDO:0017138), read 2026-09-29. CC BY 4.0.
Features
75 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- HypertelorismHPOHP:0000316
- Very frequent (80% to 99% of cases)
- Long philtrumHPOHP:0000343
- Very frequent (80% to 99% of cases)
- Prominent foreheadHPOHP:0011220
- Very frequent (80% to 99% of cases)
- Wide nasal bridgeHPOHP:0000431
- Very frequent (80% to 99% of cases)
- Abnormal corpus callosum morphologyHPOHP:0001273
- Frequent (30% to 79% of cases)
- Abnormal facial shapeHPOHP:0001999
- Frequent (30% to 79% of cases)
- Anteverted naresHPOHP:0000463
- Frequent (30% to 79% of cases)
- Cleft lipHPOHP:0410030
- Frequent (30% to 79% of cases)
- Cleft palateHPOHP:0000175
- Frequent (30% to 79% of cases)
- HypospadiasHPOHP:0000047
- Frequent (30% to 79% of cases)
- Intellectual disabilityHPOHP:0001249
- Frequent (30% to 79% of cases)
- Laryngeal cleftHPOHP:0008751
- Frequent (30% to 79% of cases)
Show the remaining 63
- Neurodevelopmental delayHPOHP:0012758
- Frequent (30% to 79% of cases)
- PtosisHPOHP:0000508
- Frequent (30% to 79% of cases)
- Short attention spanHPOHP:0000736
- Frequent (30% to 79% of cases)
- Short statureHPOHP:0004322
- Frequent (30% to 79% of cases)
- Specific learning disabilityHPOHP:0001328
- Frequent (30% to 79% of cases)
- TelecanthusHPOHP:0000506
- Frequent (30% to 79% of cases)
Where it sits
Other names
8 names
Resolves to: Opitz G/BBB syndrome
- Also called
- hypertelorism-oesophageal abnormality-hypospadias syndromehypospadias-dysphagia syndromehypospadias-hypertelorism syndromeOpitz G syndromeOpitz GBBB syndromeOpitz syndromeOpitz-Frias syndromeOpitz-GBBB syndrome