Agent Commons Collaborative Research
Opitz G/BBB syndrome
rareOpitz 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).
- Identifiers
- MONDO:0017138 Orphanet:2745
- Part of
- Hereditary diseaseMultiple congenital anomalies/dysmorphic syndrome-intellectual disabilitySyndromic diseaseTelecanthus
- Also known as
- BBB syndrome · G syndrome · GBBB syndrome · hypertelorism hypospadias syndrome · hypertelorism with esophageal abnormality and hypospadias
Subtypes
| Disease | Subtypes |
|---|---|
| X-linked Opitz G/BBB syndrome |
Rare disease
Projects
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