Syndactyly-telecanthus-anogenital and renal malformations syndrome

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.

Toe syndactyly

Webbing or fusion of the toes, involving soft parts only or including bone structure. Bony fusions are referred to as \"bony\" Syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the toes in a proximo-distal axis are referred to as \"Symphalangism\".

Total: 4

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PMID (PMCID)
28322501	MIXED_SAMPLE
	Multigenerational pedigree with STAR syndrome: A novel FAM58A variant and expansion of the phenotype.
	Boczek NJ, Kruisselbrink T, Cousin MA, Blackburn PR, Klee EW, Gavrilova RH, Lanpher BC. Am J Med Genet A. 2017;173(5):1328-1333.
	STAR syndrome is a rare X-linked dominant disorder characterized by toe Syndactyly, Telecanthus, Anogenital malformations, and Renal malformations, and is caused by loss-of-function variants in FAM58A.
26882209	FEMALE	Infant
	Ocular manifestations of X-linked dominant FAM58A mutation in toe syndactyly, telecanthus, anogenital, and renal malformations ('STAR') syndrome.
	Orge FH, Dar SA, Blackburn CN, Grimes-Hodges SJ, Mitchell AL. Ophthalmic Genet. 2016;37(3):323-7.
	To report the newest ophthalmic manifestations of a mother-daughter pair diagnosed with toe syndactyly, telecanthus, anogenital and renal malformations (STAR) syndrome, a rare X-linked developmental disorder.
26882209	FEMALE	Infant
	Ocular manifestations of X-linked dominant FAM58A mutation in toe syndactyly, telecanthus, anogenital, and renal malformations ('STAR') syndrome.
	Orge FH, Dar SA, Blackburn CN, Grimes-Hodges SJ, Mitchell AL. Ophthalmic Genet. 2016;37(3):323-7.
	Ocular manifestations of X-linked dominant FAM58A mutation in toe syndactyly, telecanthus, anogenital, and renal malformations ('STAR') syndrome.
18297069	FEMALE	Infant
	Mutations in the cyclin family member FAM58A cause an X-linked dominant disorder characterized by syndactyly, telecanthus and anogenital and renal malformations.
	Unger S, Bohm D, Kaiser FJ, Kaulfuss S, Borozdin W, Buiting K, Burfeind P, Bohm J, Barrionuevo F, Craig A, Borowski K, Keppler-Noreuil K, Schmitt-Mechelke T, Steiner B, Bartholdi D, Lemke J, Mortier G, Sandford R, Zabel B, Superti-Furga A, Kohlhase J. Nat Genet. 2008;40(3):287-9.
	Toe syndactyly, telecanthus and anogenital and renal malformations were present in all affected individuals; thus, we propose the name 'STAR syndrome' for this disorder.