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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
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
21
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
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