Version: 8.0.0
Date: Tue Jan 28 2025
Elsahy-Waters syndrome
DOID:0080631
SummaryAssociated GenesAssociated AllelesAssociated Models
Disease

Elsahy-Waters 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.
Synonyms
  • branchioskeletogenital syndrome
Cross References
Parent Terms
Child Terms
None
Sources of Associations

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