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acromegaloid facial appearance syndrome

Disease Summary
Associated Targets (1)
Tclin

1


GARD Rare
Mondo Description Acromegaloid facial appearance (AFA) syndrome is a multiple congenital anomalies/dysmorphic syndrome with a probable autosomal dominant inheritance, characterized by a progressively coarse acromegaloid-like facial appearance with thickening of the lips and intraoral mucosa, large and doughy hands and, in some cases, developmental delay. AFA syndrome appears to be part of a phenotypic spectrum that includes hypertrichotic osteochondrodysplasia, Cantu type and hypertrichosis-acromegaloid facial appearance syndrome.
Mondo Term and Equivalent IDs
MONDO:0007051:  acromegaloid facial appearance syndrome
GARD:0000501: 
MESH:C535655: 
Orphanet:965: 
SCTID:720456009: 
UMLS:C0796280: