Elsahy-Waters syndrome (DOID:0080631)
Alliance: disease page
Synonyms: branchioskeletogenital syndrome
Alt IDs: OMIM:211380, ORDO:1299
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.