Orphanet: Frontorhiny
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Frontorhiny

Disease definition

A rare frontonasal dysplasia 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.

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: -

  A summary on this disease is available in Español (2015) Italiano (2015) Nederlands (2015)

Additional information

Further information on this disease

Patient-centred resources for this disease

Research activities on this disease

Specialised Social Services

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