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RUBINSTEIN-
TAYBI SYNDROME

RTS, or broad thumb-hallux syndrome, is another name for Rubinstein-Taybi syndrome.
It is a multi-system genetic condition characterised by facial deformities, large thumbs and great toes, and developmental impairment.
It is a rare disorder and estimated to occur in 1 in 125,000-300,000 births.

Symptoms

  • Thumbs and big toes enlargement.
  • Constipation.
  • Excessive hair on the body.
  • Heart defects that may necessitate surgery.
  • Disability of the mind.
  • Seizures.
  • Short stature that becomes apparent after birth.
  • Cognitive talents grow slowly.
  • Slow motor skill development which is linked by low muscle tone.
  • Other issues with the kidney or bladder, such as an absent or an extra kidney.
  • A midface bone that is undeveloped.
  • Walking stride that is shaky or stiff.
  • eyes with a downward slant.
  • Ears that are low-set or deformed.
  • Eyelid drooping.
  • Cataracts.
  • Coloboma is a type of cancer ( defect in iris of the eye)
  • Microcephaly or macrocephaly
  • Mouth that is narrow, tiny, or sunken, with crowded teeth.
  • The nose is prominent or beaked.
  • Eyebrows that are thick or arched and have long eyelashes

Causes

The most common cause is a mutation in a gene on chromosome 16's short arm.

The gene is referred to as CBP or CREBBP. A tiny number of Rubinstein Taybi syndrome cases are caused by mutations in the EP300 gene.

Point mutations or deletions in either gene, to varying degrees, impede their regulatory roles in foetal organ development. The ultimate outcome is a variety
of problems and distinctive indicators that define Rubinstein-Taybi syndrome.

Management at SNEH

Parental Advice