Term Name: | Elsahy-Waters syndrome |
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Synonyms: | 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. |
Ontology: | Human Disease [DOID:0080631] ( DOID:0080631 ) |