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GTR Home > Conditions/Phenotypes > Elsahy-Waters syndrome

Elsahy-Waters syndrome

Synonyms
BSG syndrome; Brachioskeletogenital syndrome; Hypospadias, hypertelorism, upper lid coloboma, and mixed-type hearing loss

Summary

The core phenotype of Elsahy-Waters syndrome consists of brachycephaly, facial asymmetry, marked hypertelorism, proptosis, blepharochalasis, midface hypoplasia, broad nose with concave nasal ridge, and prognathism; radicular dentin dysplasia with consequent obliterated pulp chambers, apical translucent cysts, recurrent infections, and early loss of teeth; vertebral fusions, particularly at C2-C3; and moderate mental retardation. Skin wrinkling over the glabellar region seems common, and in males, hypospadias has always been present. Inter- and intrafamilial variability has been reported regarding the presence of vertebral fusions, hearing loss, and dentigerous cysts. Midface hypoplasia, facial asymmetry, progressive dental anomalies, and impaired cognitive development become more evident in adulthood (summary by Castori et al., 2010). [from OMIM]

Available tests

5 tests are in the database for this condition.

Clinical tests (5 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CAD11, CDHOB, ESWS, OB, OSF-4, TBHS2, CDH11
    Summary: cadherin 11

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

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