Elsahy-Waters syndrome

Term ID

DOID:0080631

Synonyms

• branchioskeletogenital 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

References

• GARD:955
• MIM:211380
• ORDO:1299

Ontology

Human Disease   ( DOID:0080631 )