3p25 microdeletion

Also known as

  • 3p25 deletion syndrome 3p-

Genetic condition that is very variable but can include learning difficulties, global development delay, speech delay/difficulties.

Condition details

3p25 deletion syndrome is a very variable condition with some people only being very mildly affected. Common features include low birth weight, feeding problems, developmental delay, hypotonia (floppiness), need for support with learning, ptosis (an inability to fully raise the upper eyelid), unusual facial features (wide-spaced eyes, low set ears, and a long groove between the nose and upper lip), small head (microcephaly), the head is sometimes an unusual shape, autism and challenging behaviour.

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Photos of affected individuals

Click images to enlarge.

  • 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

Baby
Lay terms Clinical terms
  • Developmental delay
Toddler
Lay terms Clinical terms
  • Developmental delay
  • learning difficulties and speech delay.
Child 4-10
Lay terms Clinical terms
  • Developmental delay
  • learning difficulties and speech delay.

Affected genes identified to date

  • SETD5

Inheritance patterns

Is Autosomal dominant

Each child of someone with a 3p25 deletion has a 1 in 2 chance of inheriting the deletion.

Are carriers affected?

How many are affected?

Very rare

Support groups and organisations

Dr Beverly Searle
Unique
G1 Th Stables
Station Road West
Oxted
Surrey
RH8 9EE
UK
Tel 01883 723356
Facebook www.facebook.com/groups/309999732398027

Known experts

No experts found

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