GenTIGSA Gene Database on Rare Genetic Disorders
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Shprintzen-Goldberg Syndrome  
Disease Aliases (25)

Catch 22

Craniosynostosis with arachnodactyly and abdominal hernias

Cayler cardiofacial syndrome

Conotruncal anomaly face syndrome

Craniosynostosis and marfanoid disorder, type 1

Digeorge sequence

Digeorge syndrome

Marfanoid craniosynostosis syndrome

Marfanoid disorder with craniosynostosis, type i

Marfanoid disorder with craniosynostosis type 1

Marfanoid disorder with craniosynostosis, type 1

Marfanoid-craniosynostosis syndrome

Microdeletion 22q11.2

Sgs

Sedlackova syndrome

Shprintzen golberg craniosynostosis

Shprintzen golberg craniosynostosis syndrome

Shprintzen goldberg craniosynostosis syndrome

Shprintzen syndrome

Shprintzen-goldberg craniosynostosis syndrome

Shprintzen-goldberg syndrome

Shprintzen-goldberg craniosynostosis syndrome; sgs

Shprintzen-goldberg marfanoid syndrome

Takao syndrome

Velocardiofacial syndrome

Associated Genes (2)
 

NCBI-RefSeq:  FBN1   (Fibrillin 1)

External Links:  gnomAD browser   Ensembl   GeneCards

 

NCBI-RefSeq:  SKI   (SKI proto-oncogene)

External Links:  gnomAD browser   Ensembl   GeneCards

 


Cross-references of Shprintzen-Goldberg syndrome OMIM GARD Orphanet NCBI-GTR NCBI-MedGen MalaCards      MeSH Annotations