MeSH Browser

MeSH Supplementary: Hypertelorism with esophageal abnormality and hypospadias
Unique ID: C538387
RDF Unique Identifier: http://id.nlm.nih.gov/mesh/C538387
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: 0
Heading Mapped to: Esophagus / *abnormalities; *Hypertelorism; *Hypospadias
Frequency: 26
Note: 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: 2010/08/25
Revision Date: 2022/08/08

Hypertelorism with esophageal abnormality and hypospadias Preferred

Hypertelorism with esophageal abnormality and hypospadias MeSH Supplementary Concept Data 2024