Wiedemann-Steiner Syndrome

Also known as

  • WDSTS
  • Wiedermann Grosse Dibbern syndrome

A genetic disorder causing low muscle tone, short stature and developmental delays

Condition details

Symptoms include; Low/weak muscle tone, "half moon" shaped eyes, developmental delays, small short stature, feeding troubles, some tube fed, some present with sacral dimple, hypertrichosis. Most patients also exhibit intellectual disability Facial characteristics include long eyelashes, thick or arched eyebrows with a lateral flare.

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Photos of affected individuals

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  • No baby imageBaby
  • No toddler imageToddler
  • No child 4-10 imageChild 4-10
  • No child 10-18 imageChild 10-18
  • No adult imageAdult

Typical age range of first manifestation

  • Can manifest in Baby
  • Does not manifest in Toddler
  • Does not manifest in Child 4-10
  • Does not manifest in Child 10-18
  • Does not manifest in Adult

Symptoms

Toddler
Lay terms Clinical terms
  • hairy elbows
  • Hypertrichosis cubiti

Affected genes identified to date

  • MLL

Inheritance patterns

Is Autosomal dominant

Are carriers affected?

How many are affected?

Support groups and organisations

No groups found

Known experts

No experts found

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