You are using an outdated browser. Please upgrade your browser to improve your experience.
congenital unilateral hypoplasia of depressor anguli oris
Disease Summary
Associated Targets ()
Mondo Description Congenital unilateral hypoplasia of depressor anguli oris is a congenital anomaly, characterized by the unilateral hypoplasia/agenesis of the depressor anguli oris muscle, resulting in an asymmetric crying facies in neonatal period/ infancy (drooping of one corner of the mouth during crying) while eye closure, nasolabial fold and forehead wrinkling are symmetric. While it can be isolated, this anomaly is also seen in 22q11.2 deletion syndrome and can be accompanied by other major congenital anomalies of the cardiovascular system, as well as less frequently the musculoskeletal, cervicofacial, respiratory, genitourinary, and, rarely, endocrine systems. When isolated, the condition is cosmetically insignificant as the infant gets older (as the muscle does not contribute significantly to facial expression in childhood/ adulthood).
Mondo Term and Equivalent IDs
MONDO:0007443: congenital unilateral hypoplasia of depressor anguli oris
Download Data for congenital unilateral hypoplasia of depressor anguli oris
data still loading...
Counts of Target Development Levels for diseases known to be associated with this disease. If the disease has a valid DOID, targets known to be associated with all child diseases are aggregated. Click "Explore Associated Targets" to view more facets and details for the target list.
Description from Mondo Disease Ontology.
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
OMIM:125520
Orphanet:1166
SCTID:51409009
MONDO:0007443
High level summary of knowledge for a disease, including descriptions and datasource references.