Elsahy-Waters syndrome

Summary
Synonym
  • branchioskeletogenital syndrome
Definition
A syndrome that is characterized by 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.
Super Class
syndrome
Disease Ontology
DOID:0080631
Mondo Disease Ontology
ORDO
OMIM
GARD
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
1009 CDH11 cadherin 11
Displaying 1 entry
Gene ID Gene Symbol Description Source
12552 Cdh11 cadherin 11
Displaying 1 entry
Gene ID Gene Symbol Description Source
84407 Cdh11 cadherin 11

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: December 9, 2024