Spondylocarpotarsal synostosis syndrome (SCT) is an autosomal recessive disease characterized by the malsegmentation of vertebrae and the fusion of carpal and tarsal bones. Retinal anomalies and hearing loss are also observed. Spondylocarpotarsal synostosis syndrome is due to FLNB mutations.
Category
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
Multiple developmental anomalies or syndromes
LD24 Syndromes with skeletal anomalies as a major feature
H00499 Spondylocarpotarsal synostosis syndrome
Pathway-based classification of diseases [BR:br08402]
Cellular process
nt06548 Integrin signaling
H00499 Spondylocarpotarsal synostosis syndrome
