Spondylocarpotarsal synostosis

Also Known As:

Congenital Scoliosis with Unilateral Unsegmented Bar; Congenital Synspondylism; SCT Syndrome; Scoliosis, congenital, with unilateral unsegmented bar; Spondylocarpotarsal Syndrome; Spondylocarpotarsal synostosis syndrome; Synspondylism, congenital; Vertebral fusion with carpal coalition

Networked: 14 relevant articles (0 outcomes, 0 trials/studies)

Disease Context: Research Results

Related Diseases

1.	Larsen Syndrome
2.	Boomerang dysplasia
3.	Scoliosis
4.	Dwarfism
5.	Tarsal Coalition

Experts

1.	Cohn, Daniel H: 4 articles (04/2022 - 04/2004)
2.	Krakow, Deborah: 4 articles (04/2022 - 04/2004)
3.	Zieba, Jennifer: 3 articles (04/2022 - 03/2016)
4.	Forlenza, Kimberly N: 2 articles (04/2022 - 01/2017)
5.	Heard, Kelly: 2 articles (04/2022 - 01/2017)
6.	Martin, Jorge H: 2 articles (04/2022 - 01/2017)
7.	Robertson, Stephen P: 2 articles (04/2022 - 04/2004)
8.	Lachman, Ralph S: 2 articles (01/2017 - 04/2004)
9.	Bosakova, Michaela: 1 article (04/2022)
10.	Krejci, Pavel: 1 article (04/2022)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Spondylocarpotarsal synostosis:

1.	FilaminsIBA 01/01/2017 - "Filamin B Loss-of-Function Mutation in Dimerization Domain Causes Autosomal-Recessive Spondylocarpotarsal Synostosis Syndrome with Rib Anomalies." 03/01/2016 - "Spondylocarpotarsal synostosis (SCT) is an autosomal recessive disorder characterized by progressive vertebral fusions and caused by loss of function mutations in Filamin B (FLNB). " 07/02/2007 - "As observed in spondylocarpotarsal synostosis syndrome patients, Filamin B mutant mice display ectopic mineralization in many cartilaginous elements. " 01/01/2014 - "Humans who harbor loss of function mutations in the actin-associated filamin B (FLNB) gene develop spondylocarpotarsal syndrome (SCT), a disorder characterized by dwarfism (delayed bone formation) and premature fusion of the vertebral, carpal and tarsal bones (premature differentiation). " 01/01/2022 - "Mutations of filamin B (FLNB) gene can lead to a spectrum of autosomal skeletal malformations including spondylocarpotarsal syndrome (SCT), Larsen syndrome (LRS), type I atelosteogenesis (AO1), type III atelosteogenesis (AO3), and boomerang dysplasia (BD). "
2.	Myosin Heavy Chains (Myosin Heavy Chain)IBA 05/01/2019 - "Spondylocarpotarsal synostosis syndrome, a rare syndromic skeletal disorder characterized by disrupted vertebral segmentation with vertebral fusion, scoliosis, short stature, and carpal/tarsal synostosis, has been associated with biallelic truncating mutations in the filamin B gene or monoallelic mutations in the myosin heavy chain 3 gene. "
3.	Nonsense Codon (Nonsense Mutation)IBA 04/26/2022 - "Spondylocarpotarsal syndrome (SCT) is a rare musculoskeletal disorder characterized by short stature and vertebral, carpal, and tarsal fusions resulting from biallelic nonsense mutations in the gene encoding filamin B (FLNB). "
4.	Proteins (Proteins, Gene)FDA Link 12/01/2016 - "Protein-altering MYH3 variants are associated with a spectrum of phenotypes extending to spondylocarpotarsal synostosis syndrome."
5.	Myosins (Myosin)IBA 01/01/2017 - "A postnatal role for embryonic myosin revealed by MYH3 mutations that alter TGFβ signaling and cause autosomal dominant spondylocarpotarsal synostosis."
6.	Microfilament Proteins (Actin Binding Proteins)IBA 03/06/2007 - "Mutations in filamin B (FLNB), a gene encoding a cytoplasmic actin-binding protein, have been found in human skeletal disorders, including boomerang dysplasia, spondylocarpotarsal syndrome, Larsen syndrome, and atelosteogenesis phenotypes I and III. To examine the role of FLNB in vivo, we generated mice with a targeted disruption of Flnb. "
7.	Codon (Codons)IBA 04/01/2004 - "We found homozygosity or compound heterozygosity with respect to stop-codon mutations in autosomal recessive spondylocarpotarsal syndrome (SCT, OMIM 272460) and missense mutations in individuals with autosomal dominant Larsen syndrome (OMIM 150250) and the perinatal lethal atelosteogenesis I and III phenotypes (AOI, OMIM 108720; AOIII, OMIM 108721). "
8.	Carrier Proteins (Binding Protein)IBA 05/01/2019 - "We herein report the case of a patient with a typical phenotype of spondylocarpotarsal synostosis syndrome who had a homozygous frameshift mutation in the refilin A gene (RFLNA) [c.241delC, p.(Leu81Cysfs*111)], which encodes one of the filamin-binding proteins. "
9.	A 7 (A-7)IBA 09/01/2013 - "We are presenting a 7- year- old boy, who had uroliathiasis with the spondylocarpotarsal synostosis syndrome. "

Therapies and Procedures

1.	Spinal Fusion (Spondylosyndesis) 01/01/2019 - "Spondylocarpotarsal synostosis syndrome: "Bat wings" spinal fusions and "ladybug" carpal coalitions."
2.	Osteotomy 03/01/2012 - "A total of ten patients with congenital scoliosis with unilateral unsegmented bar, who had undergone a concave-side costovertebral joint release followed by both-end wedge osteotomy via a posterior-only approach were followed up for a mean of 34 months (range 26-48 months). " 03/01/2012 - "Surgical treatment of severe congenital scoliosis with unilateral unsegmented bar by concave costovertebral joint release and both-ends wedge osteotomy via posterior approach."