Frontonasal dysplasia

Dr Jeremy Jones and Radswiki et al.

Frontonasal dysplasia is a rare disorder involving the face and often the central nervous system:

These abnormalities can be present in any combination or severity although hypertelorism tends to be a constant feature 5.

The exact pathogenesis is unknown but it is possible that a primary neural crest migration defect or a fetal ischaemic episode inhibiting cell migration being an initial event. Some consider this being part of the holoprosencephaly spectrum at the less severe end.

Genetics

Most cases are sporadic although rare familial cases have been described

The term frontonasal dysplasia was suggested by H O Sedano et al in 1970 to describe a group of patients with midline facial clefting 7.

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Article Information

rID: 15436
Synonyms or Alternate Spellings:
  • Fronto-nasal dysplasia
  • Median cleft syndrome

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