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syndactyly-telecanthus-anogenital and renal malformations syndrome

Disease Summary
Associated Targets (2)
Tchem

1

Tbio

1


GARD Rare
Mondo Description This syndrome is characterised by the association of toe syndactyly, facial dysmorphism including telecanthus (abnormal distance between the eyes) and a broad nasal tip, urogenital malformations and anal atresia.
Uniprot Description A syndrome characterized by anal, genital and renal tract anomalies, facial dysmorphism and syndactyly. Features include anal stenosis, a rectovaginal fistula, clitoral hypertrophy, a pelvic right kidney, toe syndactyly, and telecanthus.
Mondo Term and Equivalent IDs
MONDO:0010408:  syndactyly-telecanthus-anogenital and renal malformations syndrome
GARD:0010295: 
MESH:C567475: 
Orphanet:140952: 
SCTID:723581006: 
UMLS:C2678045: