Teebi-Shaltout syndrome

What is Teebi-Shaltout syndrome?

Teebi-Shaltout syndrome is a rare, genetic, development defect during embryogenesis malformation syndrome characterized by association of characteristic facial features (including abnormal head shape with narrow forehead, hypertelorism, telecanthus, small earlobes, broad nasal bridge and tip, underdeveloped ala nasi, small/wide mouth and high/cleft palate), ectodermal dysplasia (including oligodontia with delayed dentition, slow growing hair and reduced sweating) and skeletal abnormalities including camptodactyly and caudal appendage. Short stature and abnormal palmar creases are additional clinical features.

Inheritance type

Autosomal recessive


  • Worldwide: <1 in 1,000 000

Age of Onset

  • Infancy
  • Neonatal
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