Rare Diseases Symptoms Automatic Extraction

[Some features of the nose in craniofacial malformations.]

[achondroplasia]

In craniofacial malformations, the nose is variably affected: in its location, its shape or by lack of development. In this short chapter, some of the common problems encountered by the specialized teams are summarized. Craniofacial astronomies can modify the skeleton of the nose during growth, sometime at an early age. However, most rhinoplasties are performed at adulthood. The nasal pyramid may present deformations that produce functional and aesthetics impairment that should be treated when necessary. Respiratory problems should be recognized as early as possible and treated in priority.

Diseases presenting "early age" symptom

  • achondroplasia
  • aniridia
  • classical phenylketonuria
  • cohen syndrome
  • congenital adrenal hyperplasia
  • cowden syndrome
  • dentin dysplasia
  • junctional epidermolysis bullosa
  • kabuki syndrome
  • megacystis-microcolon-intestinal hypoperistalsis syndrome
  • papillon-lefèvre syndrome
  • primary hyperoxaluria type 1
  • severe combined immunodeficiency
  • werner syndrome

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