Genetics of Rubinstein-Taybi Syndrome Clinical Presentation

Updated: Sep 12, 2016
  • Author: Keith K Vaux, MD; Chief Editor: Luis O Rohena, MD, FAAP, FACMG  more...
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Presentation

Physical

Patients show multiple congenital anomalies, including intellectual disabilities, growth deficiency (postnatal), microcephaly, broad thumbs and first toes, and dysmorphic facial features. Patients have a striking facial appearance, characterized by highly arched eyebrows, long eyelashes, abnormally slanting palpebral fissures, broad nasal bridge, beaked nose, and mandibular abnormalities, including mild micrognathia. [10, 11]

Selected physical findings

Facial abnormalities

These include the following:

  • Abnormal maxilla with narrow palate
  • Prominent beaked nose
  • Down-slanting palpebral fissures
  • Low-set and/or malformed ears
  • Strabismus 
  • Large anterior fontanel 
  • Microcephaly 
  • Malpositioned or crowded teeth, high palate, short upper lip, and protuberant lower lip are also seen

Digit abnormalities

These include the following:

  • Broad great toes
  • Broad thumbs with radial angulation
  • Broadness of other fingers
  • Persistent fetal finger pads
  • Syndactyly and polydactyly

Abnormalities of growth and development

These include the following:

  • Mental retardation with intelligence quotient (IQ) of 30-79 (average 51) - More than 50% of patients have an IQ of less than 50
  • Speech difficulty
  • Hypotonia
  • Electroencephalographic abnormalities (even in the absence of seizures)
  • Growth retardation (postnatal-onset growth deficiency; Rubinstein-Taybi syndrome [RTST]–specific charts are available) - Average male height: 153 cm; average female height: 147 cm
  • Feeding problems - Gastroesophageal reflux

Skeletal abnormalities

These include the following:

  • Retarded osseous maturation
  • Vertebral and sternal abnormalities
  • Patellar dislocation

Cardiac anomalies

These include the following:

Other symptoms and findings

These include the following:

  • Cryptorchidism (very common in males)
  • Hirsutism
  • Keloid formation
  • Cardiac arrhythmias
  • Laryngeal wall collapsibility
  • Sleep and anesthesia problems