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Condition report · Neurological

DeSanto-Shinawi Syndrome

A rare neurodevelopmental disorder causing developmental delay, intellectual disability and behavioural differences, often with low muscle tone and subtle facial features. It results from loss of one working copy of the WAC gene.

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The condition we analyse

Autosomal dominant

DeSanto-Shinawi syndrome is caused by loss of one working copy of WAC, usually through a variant that stops the gene working or a deletion at chromosome 10p12 that includes it. Most cases arise de novo.

Signs and symptoms

Developmental delay and intellectual disability are typical, along with low muscle tone in infancy. Behavioural differences such as attention problems, anxiety and autism are common, as are feeding difficulties and subtle facial features such as deep-set eyes and a flat nasal bridge. Less often there are vision problems, seizures or heart defects.

What a diagnosis changes

Developmental and educational support, behavioural assessment, and feeding and vision care as needed; seizures, when they occur, are treated in the usual way. Most cases arise de novo, but a parent can carry the change, sometimes in only some of their cells, so genetic counselling and parental testing guide recurrence risk.

Genes analysed

Also known as

WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome

Includes 2 related subtypes ↓
  • DeSanto-Shinawi Syndrome due to 10p11.21p12.31 microdeletion
  • DeSanto-Shinawi syndrome due to WAC point mutation
MONDO:0018760Orphanet 466943MedGen 908218Sources: [1][2][3]

Limitations

  • Some people with DeSanto-Shinawi syndrome have a deletion at 10p12 that removes all or part of WAC. Larger deletions like this are not detected by small-variant analysis, so a negative result does not rule out the condition.

References

  1. Varvagiannis K, de Vries BBA, Vissers LELM, 2017. WAC-Related Intellectual Disability. GeneReviews
  2. Rahbeeni Z, Alwadani N, Al-Shehhi M, Faqeih EA, Mohamed S, 2026. Report of DeSanto-Shinawi Syndrome in Three Boys With Two Novel Variants in the WAC Gene and Expansion of the Phenotype. Cureus
  3. Quental R, Gonçalves D, Rodrigues E, Serrano Gonçalves E, Oliveira J, Parente Freixo J et al., 2022. Congenital heart defects associated with pathogenic variants in WAC gene: Expanding the phenotypic and genotypic spectrum of DeSanto-Shinawi syndrome. American journal of medical genetics. Part A

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