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Wilson-Turner syndrome

Synonym(s) X-linked intellectual disability - gynecomastia - obesity
Prevalence <1 / 1 000 000
Inheritance X-linked recessive
or X-linked dominant
Age of onset Childhood
ICD-10 -
MeSH -
MedDRA -


Wilson-Turner syndrome (WTS) is a very rare X-linked multisystem genetic disease characterized by intellectual disability, truncal obesity, gynecomastia, hypogonadism, dysmorphic facial features, and short stature.

Prevalence of WTS is not known. The syndrome has been described in two families to date: 14 males in the 3 most recent generations of the first family, and 7 males and 7 females in a 5-generation Dutch family.

Affected males were described as having severe intellectual disability, truncal obesity, gynecomastia, hypogonadism,short stature (in the second family), small hands and feet, tapering fingers and facial dysmorphism including a small head, short ears, prominentsupraorbital ridges, deep-set eyes, high malae, broad nasal tip, thin upper vermillion, and retrognathia. In obligate female carriers in the second family, a milderphenotype including learning disorders and recognizablefacial features was reported. The described phenotype overlaps with Börjeson-Forssman-Lehmann syndrome (see this term), a form of X-linked intellectual disability. Differences between the two described families are small, but there is a possibility that they represent different clinical entities.

The syndrome has been linked to a mutation in the consensus donor splice site of the histonedeacetylase 8 HDAC8 gene (Xq13).

X-linked recessive transmission and X-linked dominant inheritance with absence of male-to-male transmission have been reported.

Expert reviewer(s)

  • Dr J.K. [Hans Kristian] PLOOS VAN AMSTEL

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