Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic

Gene: SON

Green List (high evidence)

ZTTK syndrome is a severe multisystem developmental disorder characterised by intellectual disability, characteristic dysmorphic facial features, hypotonia, poor feeding, poor overall growth, and eye or visual abnormalities. Most individuals also have musculoskeletal abnormalities, and some have congenital defects of the heart and urogenital system. Brain imaging usually shows developmental abnormalities such as gyral changes, cortical and/or cerebellar atrophy, and thin corpus callosum. More than 40 unrelated individuals reported.

Kidney anomalies are relatively common and include horseshoe kidney, unilateral renal hypoplasia, and renal cysts.
Sources: Expert Review

Created: 4 Oct 2020, 9:32 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
ZTTK syndrome, MIM# 617140

Publications

• 27545680
• 27545676
• 31005274