4q deletion syndrome

Also known as

Condition details

The most likely effects of a distal 4q deletion are: • A degree of developmental delay and difficulty with learning. • A cleft in the palate and less commonly a cleft lip. • A structural heart anomaly. This may be slight and resolve naturally or more serious and require correction by surgery. • Difficulties in co-ordinating the actions of

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Photos of affected individuals

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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


Lay terms Clinical terms
  • Delayed visual maturation
  • low muscle tone
Lay terms Clinical terms
  • Delayed development
  • glue ear
  • short stature
  • sensory issues

Affected genes identified to date

  • 4q21.21.21.22

Inheritance patterns

Are carriers affected?


How many are affected?

Support groups and organisations

G1The Stables
station Road West
Tel 01883 723356

Known experts

Dr Strehle
Field of interest
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