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Condition report · Other

Simpson-Golabi-Behmel Syndrome

An X-linked overgrowth condition, mainly affecting boys, causing large size before and after birth, distinctive facial features and an increased risk of some childhood tumours. It is caused by changes in or deletions of the GPC3 gene.

A condition report looks for rare variants known to cause the conditions it covers.

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The condition we analyse

X-linked recessive

Caused by loss of function of GPC3 on the X chromosome, which encodes glypican-3, a cell-surface protein that restrains growth. Males are affected; carrier females usually have no or mild features.

Signs and symptoms

Large size at birth and fast growth, a large tongue, wide-set eyes, a broad nose and a wide mouth. Extra nipples, extra fingers, umbilical hernia and heart, kidney or skeletal differences can also occur. Some people have intellectual disability, while others have normal intelligence. About 1 in 10 develop tumours in early childhood, such as Wilms tumour and hepatoblastoma.

What a diagnosis changes

Tumour surveillance in early childhood, typically with regular abdominal ultrasound, together with heart, kidney and developmental assessment. Female relatives can have carrier testing, and genetic counselling covers the 1 in 2 chance that a carrier mother's sons are affected.

Genes analysed

Also known as

DGSX; Golabi-Rosen syndrome; Sara Angers syndrome; SDYS; SGB syndrome; SGBS; X-linked dysplasia gigantism syndrome

Includes 2 related subtypes ↓
  • Simpson-Golabi-Behmel syndrome type 1
  • Simpson-Golabi-Behmel syndrome type 2
MONDO:0010731Orphanet 373MedGen 1387611Sources: [1][4][2]

Limitations

  • Some causes of Simpson-Golabi-Behmel syndrome are deletions removing one or more exons or all of GPC3, which small-variant analysis may not detect, so a negative result does not rule out the condition.

References

  1. Nisbet AF, Hathaway ER, Kalish JM, 2006. Simpson-Golabi-Behmel Syndrome Type 1. GeneReviews
  2. Simpson-Golabi-Behmel syndrome. MedlinePlus Genetics
  3. Ho M, Kim H, 2011. Glypican-3: a new target for cancer immunotherapy. European journal of cancer (Oxford, England : 1990)
  4. Vaisfeld A, Neri G, 2024. Simpson-Golabi-Behmel syndrome. American journal of medical genetics. Part C, Seminars in medical genetics

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