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Sotos syndrome

MONDO:0019349

Sotos syndrome is a rare multisystemic genetic disorder characterized by a typical facial appearance, overgrowth of the body in early life with macrocephaly, and mild to severe intellectual disability.

Also known as: NSD1 Sotos syndrome, Sotos syndrome, Sotos syndrome 1, Sotos syndrome caused by mutation in NSD1, Sotos syndrome type 1, Sotos' syndrome, cerebral gigantism, cerebral gigantism syndrome

1 clinical trial for this condition and its sub-types.

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Broader categories

Disease (680) Musculoskeletal system disorder (207) Hereditary disease (176) Bone disorder (51) Syndromic disease (25) Human disease (14) Chromosomal disorder (12) Developmental defect during embryogenesis (8) Skeletal system disorder (4) Disease of genetic or genomic mechanism (2)
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  • New Four-Drug cocktail aims to wipe out Hard-to-Treat myeloma

    Disease control Not yet recruiting

    This study tests a combination of four drugs—sotoclax, carfilzomib, lenalidomide, and dexamethasone (called SonKRd)—in people newly diagnosed with multiple myeloma that has a specific genetic change called t(11;14). Participants must be healthy enough for a stem cell transplant. …

    Phase: PHASE4 • Sponsor: The First Affiliated Hospital of Soochow University • Aim: Disease control

    Last updated Jul 19, 2026 00:00 UTC

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