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Metadata
ID DOID:0080631
Name 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.
https://www.ncbi.nlm.nih.gov/pubmed/20949527
Xrefs

GARD:955

OMIM:211380

ORDO:1299

Subsets

DO_rare_slim

Synonyms

branchioskeletogenital syndrome [EXACT]

Parent Relationships

is_a syndrome

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