Conditions / Syndrome
Opitz GBBB syndrome
info · Syndrome
A syndrome that is a congenital midline malformation syndrome that is characterized by hypertelorism, hypospadias, cleft lip/palate, laryngotracheoesophageal abnormalities, imperforate anus, developmental delay, and cardiac defects and that has_material_basis_
A syndrome that is a congenital midline malformation syndrome that is characterized by hypertelorism, hypospadias, cleft lip/palate, laryngotracheoesophageal abnormalities, imperforate anus, developmental delay, and cardiac defects and that has_material_basis_in mutation in the MID1 gene on chromosome Xp22.
Signs and symptoms
- Telecanthus
- Hypertelorism
- Dysphagia
- Hypospadias
- Global developmental delay
- Anal atresia
- Agenesis of corpus callosum
- Gastroesophageal reflux
- Thin upper lip vermilion
- High palate
Also known as: Opitz G/BBB Syndrome; Opitz GBBB syndrome type I