Orphanet: Frontorhiny
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Frontorhiny

Disease definition

Frontorhiny is a distinct syndromic type of frontonasal malformation characterized by hypertelorism, wide nasal bridge, broad columella, widened philtrum, widely separated narrow nares, poor development of nasal tip, midline notch of the upper alveolus, columella base swellings and a low hairline. Additional features reported in some include upper eyelid ptosis and midline dermoid cysts of craniofacial structures and philtral pits or rugose folding behind the ears. An autosomal recessive inheritance has been proposed.

ORPHA:391474

Classification level: Disorder
  • Synonym(s):
    • ALX3-related frontonasal dysplasia
    • Frontonasal dysplasia type 1
    • Isolated median cleft face syndrome
  • Prevalence: Unknown
  • Inheritance: Autosomal recessive 
  • Age of onset: Neonatal
  • ICD-10: Q75.8
  • OMIM: 136760
  • UMLS: -
  • MeSH: -
  • GARD: 12642
  • MedDRA: -
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