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

Symptoms

Baby
Lay terms Clinical terms
  • Delayed visual maturation
  • low muscle tone
Toddler
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?

Yes

How many are affected?

Support groups and organisations

Unique
G1The Stables
station Road West
Oxted
Surrey
RH8 9EE
UK
Tel 01883 723356
Facebook

Known experts

Dr Strehle
Field of interest
Tel
Facebook
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