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.

Tethered cord

During normal embryological development, the spinal cord first occupies the entire length of the vertebral column but goes on to assume a position at the level of L1 due to differential growth of the conus medullaris and the vertebral column. The filum terminale is a slender, threadlike structure that remains after the normal regression of the distal embryonic spinal cord and attaches the spinal cord to the coccyx. A tethered cord results if there is a thickened rope-like filum terminale which anchors the cord at the level of L2 or below, potentially causing neurologic signs owing to abnormal tension on the spinal cord.

Total: 3

(per page)

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.
	To our knowledge, this is the first occurrence of a nonsense variant in FAM58A described in individuals with STAR syndrome and the phenotype in this pedigree suggests that tethered cord and hearing loss are features of STAR syndrome.
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.
	To our knowledge, this is the first occurrence of a nonsense variant in FAM58A described in individuals with STAR syndrome and the phenotype in this pedigree suggests that tethered cord and hearing loss are features of STAR syndrome.
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.
	Our proband presented with the hallmark features of STAR syndrome, as well as some additional less typical features including tethered cord and hearing loss.