Conditions / Syndrome

Elsahy-Waters syndrome

info ยท Syndrome

A syndrome that is characterized by brachycephaly, facial asymmetry, marked hypertelorism, proptosis, blepharochalasis, midface hypoplasia, broad nose with concave nasal ridge, and prognathism; radicular dentin dysplasia with consequent obliterated pulp chambe

A syndrome that is characterized by brachycephaly, facial asymmetry, marked hypertelorism, proptosis, blepharochalasis, midface hypoplasia, broad nose with concave nasal ridge, and prognathism; radicular dentin dysplasia with consequent obliterated pulp chambers, apical translucent cysts, recurrent infections, and early loss of teeth; vertebral fusions, particularly at C2-C3; and moderate mental retardation.

Signs and symptoms

  • Delayed eruption of teeth
  • Mild intellectual disability
  • Multiple impacted teeth
  • Hypertelorism
  • Intellectual disability
  • Abnormality of the anus
  • Thick eyebrow
  • Global developmental delay
  • Cutaneous finger syndactyly
  • Dental malocclusion

Also known as: branchioskeletogenital syndrome