Table 2. [Genes of Interest in the Differential Diagnosis of Spondylocarpotarsal Synostosis (SCT) Syndrome]. - GeneReviews®

Gene(s)	Differential Diagnosis Disorder	MOI	Clinical Features
DLL3 HES7 LFNG MESP2 RIPPLY2 TBX6	Spondylocostal dysplasia (See Spondylocostal Dysostosis, AR.)	AR (AD) ¹	Vertebral dysplasia	Rib anomalies in spondylocostal dysplasia
FGF9 GDF5 NOG	Multiple synostosis (OMIM PS186500)	AD	Vertebral dysplasia	Progressive symphalangism & distinct facial findings in multiple synostosis
GDF6	Klippel-Feil syndrome 1 (OMIM 118100)	AD	Vertebral, carpal, & tarsal fusions similar to findings in SCT syndrome	No carpal or tarsal fusions. Isolated cervical fusions do not occur in SCT syndrome.
MYH3	Contractures, pterygia, & variable skeletal fusions syndrome 1A (OMIM 178110)	AD	Vertebral, carpal, & tarsal fusions similar to findings in SCT syndrome	Pterygia can be present in persons w/MYH3 pathogenic variant(s).
Contractures, pterygia, & variable skeletal fusions syndrome 1B (OMIM 618469)	AR	Vertebral, carpal, & tarsal fusions similar to findings in SCT syndrome

Gene(s)

Differential Diagnosis Disorder

MOI

Clinical Features

Overlapping

Differentiating

DLL3
HES7
LFNG
MESP2
RIPPLY2
TBX6

Spondylocostal dysplasia (See Spondylocostal Dysostosis, AR.)

AR
(AD) ¹

Vertebral dysplasia

Rib anomalies in spondylocostal dysplasia

FGF9
GDF5
NOG

Multiple synostosis (OMIM PS186500)

Vertebral dysplasia

Progressive symphalangism & distinct facial findings in multiple synostosis

GDF6

Klippel-Feil syndrome 1 (OMIM 118100)

Vertebral, carpal, & tarsal fusions similar to findings in SCT syndrome

No carpal or tarsal fusions. Isolated cervical fusions do not occur in SCT syndrome.

MYH3

Contractures, pterygia, & variable skeletal fusions syndrome 1A (OMIM 178110)

Vertebral, carpal, & tarsal fusions similar to findings in SCT syndrome

Pterygia can be present in persons w/MYH3 pathogenic variant(s).

Contractures, pterygia, & variable skeletal fusions syndrome 1B (OMIM 618469)

Vertebral, carpal, & tarsal fusions similar to findings in SCT syndrome

From: FLNB Disorders

GeneReviews^® [Internet].

Adam MP, Feldman J, Mirzaa GM, et al., editors.

Seattle (WA): University of Washington, Seattle; 1993-2024.

GeneReviews® chapters are owned by the University of Washington. Permission is hereby granted to reproduce, distribute, and translate copies of content materials for noncommercial research purposes only, provided that (i) credit for source (http://www.genereviews.org/) and copyright (© 1993-2024 University of Washington) are included with each copy; (ii) a link to the original material is provided whenever the material is published elsewhere on the Web; and (iii) reproducers, distributors, and/or translators comply with the GeneReviews® Copyright Notice and Usage Disclaimer. No further modifications are allowed. For clarity, excerpts of GeneReviews chapters for use in lab reports and clinic notes are a permitted use.

For more information, see the GeneReviews® Copyright Notice and Usage Disclaimer.

For questions regarding permissions or whether a specified use is allowed, contact: ude.wu@tssamda.

NCBI Bookshelf. A service of the National Library of Medicine, National Institutes of Health.