Opitz gbbb syndrome, type II

Preferred Label : Opitz gbbb syndrome, type II;

Obsolete resource : true;

Moved to : 145420;

Symbol : GBBB2;

CISMeF acronym : GBBB2; OGS2;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Hypospadias-dysphagia syndrome; Opitz oculogenitolaryngeal syndrome, type II; Opitz bbbg syndrome; Opitz-g syndrome, type II; Hypertelorism with esophageal abnormality and hypospadias; Chromosome 22q11.2 deletion syndrome, opitz phenotype; Bbb syndrome; G syndrome; Telecanthus with associated abnormalities; OGS2; Opitz gbbb syndrome, autosomal dominant; Opitz-frias syndrome; Hypertelorism-hypospadias syndrome; Telecanthus-hypospadias syndrome; Gbbb syndrome;

Description : Features of the Opitz GBBB syndrome include hypertelorism or telecanthus; laryngotracheoesophageal cleft; clefts of lip, palate, and uvula; swallowing difficulty and hoarse cry; genitourinary defects, especially hypospadias in males and splayed labia majora in females; mental retardation; developmental delay; and congenital heart defects. The Opitz GBBB syndrome was earlier thought to be 2 separate X-linked syndromes called the G syndrome and the BBB syndrome; both were listed in the X-linked catalog as recently as the seventh edition of MIM (1986). The Opitz GBBB syndrome is genetically heterogeneous, with both autosomal dominant and X-linked (300000) forms. Robin et al. (1996) compared the phenotypic features of the X-linked and autosomal forms. They found that anteverted nares and posterior pharyngeal cleft were seen only in the X-linked form. However, all other manifestations of the syndrome, such as hypertelorism, swallowing difficulties, hypospadias, and developmental delay, were seen in both forms.;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the sperm antigen with calponin homology and coiled-coil domains 1-like gene (SPECC1L, 614140.0002);

Prefixed ID : 145410;

Details

Origin ID

145410;

UMLS CUI

C1801950;

Automatic exact mappings (from CISMeF team)
- Opitz GBBB syndrome type II [DO Concept]
- digeorge syndrome [MeSH Descriptor]
Broader ORDO disease(s)
- Opitz GBBB syndrome [ORDO Disease]
Currated CISMeF NLP mapping
- Autosomal dominant Opitz G/BBB syndrome [ORDO Disease]
- Hypertelorism with esophageal abnormality and hypospadias [MeSH concept]
- Opitz BBB/G syndrome [ICD-11 More detail]
- Opitz G BBB syndrome [PASCAL descriptor]
- Opitz G/BBB Syndrome [NCIt concept]
- Opitz GBBB syndrome [ORDO Disease]
- Opitz-Frias syndrome (disorder) [SNOMED CT concept]
- Opitz-G/BBB syndrome [MedDRA Preferred Term]
- Opitz-GBBB syndrome [DO Concept]
- hypertelorism with esophageal abnormality and hypospadias [MeSH Supplementary Concept]
- opitz-frias syndrome [SNOMED Notion]
DO Cross reference
- Opitz GBBB syndrome type II [DO Concept]
HPO term(s)
- Abnormality of the kidney [HPO term]
- Abnormality of the ureter [HPO term]
- Absent gallbladder [HPO term]
- Agenesis of corpus callosum [HPO term]
- Anal atresia [HPO term]
- Anal stenosis [HPO term]
- Aplasia/Hypoplasia of the cerebellar vermis [HPO term]
- Aspiration [HPO term]
- Atrial septal defect [HPO term]
- Autosomal dominant inheritance [HPO term]
- Bifid scrotum [HPO term]
- Bifid uvula [HPO term]
- Cavum septum pellucidum [HPO term]
- Cerebellar vermis hypoplasia [HPO term]
- Cerebral cortical atrophy [HPO term]
- Cleft palate [HPO term]
- Cleft upper lip [HPO term]
- Coarctation of aorta [HPO term]
- Conductive hearing impairment [HPO term]
- Cranial asymmetry [HPO term]
- Craniosynostosis [HPO term]
- Cryptorchidism [HPO term]
- Depressed nasal bridge [HPO term]
- Diastasis recti [HPO term]
- Downslanted palpebral fissures [HPO term]
- Dysphagia [HPO term]
- Epicanthus [HPO term]
- Frontal bossing [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- Hiatus hernia [HPO term]
- High palate [HPO term]
- High-arched palate [HPO term]
- Hoarse cry [HPO term]
- Hypertelorism [HPO term]
- Hypospadias [HPO term]
- Hypotonia [HPO term]
- Infantile onset [HPO term]
- Inguinal hernia [HPO term]
- Intellectual disability [HPO term]
- Laryngeal cleft [HPO term]
- Micrognathia [HPO term]
- Patent ductus arteriosus [HPO term]
- Posteriorly rotated ears [HPO term]
- Prominent forehead [HPO term]
- Pulmonary arterial hypertension [HPO term]
- Pulmonary hypoplasia [HPO term]
- Short lingual frenulum [HPO term]
- Smooth philtrum [HPO term]
- Strabismus [HPO term]
- Telecanthus [HPO term]
- Thin upper lip vermilion [HPO term]
- Tracheoesophageal fistula [HPO term]
- Umbilical hernia [HPO term]
- Ventricular septal defect [HPO term]
- Ventriculomegaly [HPO term]
- Weak cry [HPO term]
- Wide nasal bridge [HPO term]
- Widow's peak [HPO term]
ORDO concept(s)
- Autosomal dominant Opitz G/BBB syndrome [ORDO Disease]
- Opitz GBBB syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Autosomal dominant Opitz G/BBB syndrome [ORDO Disease]
- Hypertelorism with esophageal abnormality and hypospadias [MeSH concept]
- Opitz G/BBB Syndrome [NCIt concept]
- Opitz-G/BBB syndrome [MedDRA Preferred Term]
- hypertelorism with esophageal abnormality and hypospadias [MeSH Supplementary Concept]

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