| 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 | |
| Subsets |
DO_rare_slim |
| Synonyms |
branchioskeletogenital syndrome [EXACT] |
| Parent Relationships |
is_a syndrome |
| Subclass Logical Relationships |
has symptom some ptosis |