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Hypertelorism with esophageal abnormality and hypospadias MeSH Supplementary Concept Data 2022

MeSH Supplementary
Hypertelorism with esophageal abnormality and hypospadias
Unique ID
RDF Unique Identifier
Entry Term(s)
Autosomal Dominant Opitz Syndrome (ADOS)
Brachycephalofrontonasal dysplasia
Chromosome 22q11.2 Deletion Syndrome, Opitz Phenotype
Hypertelorism hypospadias syndrome
Hypertelorism with Esophageal Abnormalities and Hypospadias
Hypertelorism, Teebi type
Hypertelorism-Hypospadias Sydrome
Hypospadias-Dysphagia Syndrome
Hypospadias-dysphagia, syndrome
Opitz BBB Syndrome
Opitz BBB-G Syndrome
Opitz BBBG syndrome
Opitz G Syndrome
Opitz G-BBB Syndrome
Opitz GBBB Syndrome, Autosomal Dominant
Opitz GBBB Syndrome, Type II
Opitz Oculogenitolaryngeal Syndrome, Type II
Opitz-Frias syndrome
Opitz-G Syndrome, Type II
Opitz-G syndrome, type 2
Teebi hypertelorism syndrome
Teebi syndrome
Telecanthus with associated abnormalities
Registry Number
Heading Mapped to
Esophagus / *abnormalities
A hereditary syndrome characterized by hypertelorism or telecanthus (increased distance between the inner corners of the eyes); 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, intellectual disability, developmental delay, and congenital heart defects. It is caused by mutations in the SPECC1L gene. OMIM: 145410
Date of Entry
Revision Date
Hypertelorism with esophageal abnormality and hypospadias Preferred
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