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Also Known as “Big Thumb Syndrome”

In 1963, physicians Jack Rubinstein and Shang Taybi published a study on a group of children who showed similarities in certain physical traits and developmental delays. These children were characterized by short stature and large thumbs on both hands and feet, despite having no family relation. This cluster of features was later defined as Rubinstein-Taybi Syndrome (RSTS), also called Big Thumb Syndrome.

Diagnosis

RSTS is usually diagnosed after the second year of life, based on:

  • Physical features
  • Chromosomal testing, which reveals abnormalities on the short arm of chromosome 16 and a mutation in the CREBB gene
  • EEG (Electroencephalogram), which is abnormal in most cases
  • CT scan of the head, which may show widening at the skull base foramen

Prevalence

  • Approximately 1 case per 300,000 births
  • Affects males and females equally
  • The likelihood of recurrence in the same family: 1 in 1,000

Causes

Most cases are due to spontaneous genetic mutations and are not inherited. The syndrome is associated with abnormalities in the short arm of chromosome 16 and mutations in the CREBB gene.

Distinctive Clinical Features

Physical Features

  • Short stature and delayed skeletal growth, often accompanied by spinal curvature and vertebral anomalies
  • Large thumbs on hands and feet, sometimes affecting all fingers, with broad, flat nails
  • Small head size, prominent forehead, and thick hair
  • Outward and downward slanting eyes, inner eye corner folds, upper eyelid drooping
  • Prominent nose, narrow mouth, high-arched palate, and irregular teeth

Cognitive Features

  • Intellectual disability with an IQ between 30-70, ranging from mild to severe
  • Poor concentration, delayed speech and language development
  • High use of sign language among affected children
  • Seizures occur in about 25% of cases

Social Features

  • Typically friendly, sociable, and peaceful
  • May be dependent due to motor difficulties and weakened physical constitution

Associated Conditions

  • Visual problems: strabismus and glaucoma, which may lead to blindness
  • Hearing problems: hearing loss in 25% of cases, along with recurrent ear infections
  • Seizures: in 25% of cases
  • Respiratory issues: recurrent upper respiratory infections
  • Congenital anomalies: heart and kidney defects in 35-40% of cases

Treatment

There is no cure for the syndrome itself, but medical and rehabilitative interventions can reduce complications and improve quality of life:

Medical Management

  • Treating seizures, ear infections, and heart issues
  • Improving hearing with assistive devices
  • Managing glaucoma in affected individuals

Rehabilitative Management

  • Speech and language therapy
  • Motor and sensory skill development
  • Optimal use of senses through sensory development programs
  • Comprehensive psychological and educational assessment to identify strengths, weaknesses, and cognitive levels, forming a personalized therapeutic plan

Cedra Center for Special Needs in Ajman provides these comprehensive services for children with Rubinstein-Taybi Syndrome, ensuring optimal medical, educational, and therapeutic support.