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]

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]

  • Acromegaly
  • Alpha-mannosidosis type II
  • Aspartylglycosaminuria
  • Battaglia Neri syndrome
  • Borjeson Syndrome
  • Chromosome 6q deletion syndrome
  • Coarse face - hypotonia - constipation
  • Congenital hypothyroidism
  • Dandy-Walker malformation (with mental retardation basal ganglia disease and seizures)
  • Dyggve-Melchior-Clausen Syndrome
  • Fucosidosis type 1
  • Fucosidosis type II
  • Gangliosidosis generalized GM1 (type 1)
  • Gangliosidosis GM1 (type 3)
  • GM1 gangliosidosis
  • Goldberg syndrome
  • Hyde-Forster-Mccarthy-Berry syndrome
  • Hyper IgE
  • Hypomelanosis of Ito
  • I cell disease
  • Immunodeficiency due to defect in MAPBP-interacting protein
  • Infantile sialic acid storage disorder
  • Job syndrome
  • Mannosidosis (alpha B lysosomal)
  • McCune-Albright Syndrome
  • Mental retardation (X-linked - epilepsy - progressive joint contractures - typical face)
  • Mental retardation (X-linked Raynaud type)
  • Miescher's syndrome
  • Morquio syndrome
  • Morquio syndrome type A
  • Morquio syndrome type B
  • MPS 3 C
  • MPS 3 D
  • Mucolipidosis III
  • Mucopolysaccharidosis type 2 Hunter syndrome- mild form
  • Mucopolysaccharidosis type 2 Hunter syndrome- severe form
  • Mucopolysaccharidosis type 3
  • Mucopolysaccharidosis type 6
  • Mucopolysaccharidosis type 7 Sly syndrome
  • Mucopolysaccharidosis type I Hurler syndrome
  • Mucopolysaccharidosis type I Hurler/Scheie syndrome
  • Mucopolysaccharidosis type I Scheie syndrome
  • Multiple endocrine abnormalities - adenylyl cyclase dysfunction
  • Multiple endocrine neoplasia type 2b
  • Neuraminidase deficiency (type II juvenile form)
  • Nodulosis-arthropathy-osteolysis syndrome
  • Nonkeratan-sulfate-excreting Morquio syndrome
  • Pituitary tumors (adult)
  • Sialidosis type II (congenital)
  • Sialidosis type II (infantile)
  • Sialuria syndrome
  • Simpson-Golabi-Behmel syndrome
  • Simpson-Golabi-Behmel syndrome - type 1 (SGBS1)
  • Skeletal dysplasia - coarse facies - mental retardation
  • Spondyloepimetaphyseal dysplasia (genevieve type)
  • Sulfatidosis juvenile (Austin type)
  • Winchester syndrome
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See also

References
  1. 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.
  2. "Causes of Coarse facial features". WrongDiagnosis.com. 18 November 2010. Retrieved 3 January 2011.


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