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auriculocondylar syndrome

Disease Summary
Associated Targets (3)
Tbio

3


GARD Rare
Mondo Description Auriculo-condylar syndrome (ACS) presents with bilateral external ear malformations ('question mark' ears), mandibular condyle hypoplasia, microstomia, micrognathia, microglossia and facial asymmetry. Additional manifestations include hypotonia, ptosis, cleft palate, puffy cheeks, developmental delay, impaired hearing and respiratory distress.
Mondo Term and Equivalent IDs
MONDO:0000107:  auriculocondylar syndrome
DC:0000475: 
GARD:0009798: 
MESH:C538270: 
OMIMPS:602483: 
Orphanet:137888: 
SCTID:702443003: 
UMLS:C1865295: 
UMLS:CN160484: