Opitz G/BBB syndrome
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).
MONDO:0020119
X-linked syndromic intellectual disability
excluded_subClassOf
MONDO:0002254
syndromic disease
is_a
MONDO:0003847
hereditary disease
is_a
MONDO:0008537
telecanthus
is_a
MONDO:0015159
multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a
BBB syndrome
related
G syndrome
related
GBBB syndrome
related
Opitz BBBG syndrome
related
Opitz G syndrome
exact
Opitz G/BBB syndrome
exact
Opitz GBBB syndrome
exact
Opitz syndrome
exact
Opitz-Frias syndrome
exact
Opitz-G syndrome, type 2
related
Opitz-GBBB syndrome
exact
hypertelorism hypospadias syndrome
related
hypertelorism with esophageal abnormality and hypospadias
related
hypertelorism-oesophageal abnormality-hypospadias syndrome
exact
hypospadias-dysphagia syndrome
exact
hypospadias-dysphagia, syndrome
related
hypospadias-hypertelorism syndrome
exact
telecanthus with associated abnormalities
related