{"id":27174,"date":"2024-05-26T16:05:57","date_gmt":"2024-05-26T14:05:57","guid":{"rendered":"https:\/\/www.krebs-praedisposition.de\/?post_type=kompendium&p=27174"},"modified":"2025-08-26T14:00:06","modified_gmt":"2025-08-26T12:00:06","slug":"schinzel-giedion-syndrome","status":"publish","type":"kompendium","link":"https:\/\/www.krebs-praedisposition.de\/en\/kompendium\/schinzel-giedion-syndrome\/","title":{"rendered":"Schinzel-Giedion Syndrome"},"content":{"rendered":"

Schinzel-Giedion Syndrome \u2013\u00a0Definition<\/h2><\/div>
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Schinzel-Giedion syndrome (SGS, OMIM #269150) is a genetic disease caused by pathogenic variants in the SETBP1<\/em> gene. It is characterized by severe developmental delays, characteristic facies, and multiple congenital anomalies, particularly of a skeletal, urogenital, renal, and cardiac nature. In addition, there is also a predisposition to embryonic tumors, hepatoblastomas, and sacrococcygeal germ cell tumors. Patients usually die within the first decade of life.<\/p>\n<\/div>

Synonym:<\/p>\n<\/div><\/div><\/div>

Schinzel-Giedion midface retraction syndrome<\/p>\n<\/div><\/div><\/div><\/div>

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Gene:<\/p>\n<\/div><\/div><\/div>

SETBP1<\/i><\/p>\n<\/div><\/div><\/div><\/div>

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Gen\u00ade product:<\/p>\n<\/div><\/div><\/div>

SET-binding protein-1<\/p>\n<\/div><\/div><\/div><\/div>

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Function:<\/p>\n<\/div><\/div><\/div>

DNA replication<\/p>\n<\/div><\/div><\/div><\/div>

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Pattern of inheritance:<\/p>\n<\/div><\/div><\/div>

Autosomal dominant, but generally de novo<\/i> mutations<\/p>\n<\/div><\/div><\/div><\/div>

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Prevalence:<\/p>\n<\/div><\/div><\/div>

<1 : 1.000.000<\/p>\n<\/div><\/div><\/div><\/div>

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Genotype-phenotype correlation:<\/p>\n<\/div><\/div><\/div>

Unknown<\/p>\n<\/div><\/div><\/div><\/div>

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Penetrance:<\/p>\n<\/div><\/div><\/div>

Unknown<\/p>\n<\/div><\/div><\/div><\/div><\/div><\/div>

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Overview of the Chapters on This Page:<\/h4><\/div><\/div><\/div>