DISEASES

Disease-gene associations mined from literature

Human genes for Elsahy-Waters syndrome

Elsahy-Waters syndrome [DOID:0080631]

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:  Elsahy-Waters syndrome,  DOID:0080631,  ElsahyWaters syndrome,  Elsahy-Waters disease,  Elsahy-Waters disorder ...