FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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Term Elsahy-Waters syndrome ID (Ontology) DOID:0080631 (Human Disease)
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.
Also Known As "branchioskeletogenital syndrome"
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 Elsahy-Waters syndrome       1
 for disease ribbon | Elsahy-Waters syndrome       1
 model of | Elsahy-Waters syndrome       1
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       |__Elsahy-Waters syndrome  1 rec.
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Synonyms
  • "branchioskeletogenital syndrome" EXACT
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GARD:955
MIM:211380
ORDO:1299