Coarse facial features

Coarse facial features or coarse facies describes a constellation of facial features that are present in many inborn errors of metabolism.[1]

Coarse facies
A 16 year old with Mucopolysaccharidosis showing coarse facial features.
SpecialtyMedical genetics

Features include:[1]

  • large, bulging head
  • prominent scalp veins
  • "saddle-like, flat bridged nose with broad, fleshy tip"
  • large lips and tongue
  • small, widely spaced and/or malformed teeth
  • hypertrophic alveolar ridges and/or gums

Heads tend to be longer than normal from front to back, with a bulging forehead. This is because of the earlier than normal or premature fusion of skull bones in an affected individual.

Causes

Several conditions are associated with coarse facial features.[2]

See also

References

  1. 1 2 Kagalwala, T. Y.; Bharucha, B. A.; Khare, R. D.; Kumta, N. B. (1 November 1988). "Diagnostic approach to coarse facies". The Indian Journal of Pediatrics. 55 (6): 861–870. doi:10.1007/BF02727817. PMID 3235137. S2CID 27241573.
  2. "Causes of Coarse facial features". WrongDiagnosis.com. 18 November 2010. Retrieved 3 January 2011.


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