Coarse facial features


Coarse facial features is a constellation of facial features that are present in many inborn errors of metabolism.
Features include:
  • 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
The head tends to be longer than normal from front to back, with a bulging forehead. This is because of the premature fusion of skull bones in the affected person.

Causes

Several conditions are associated with coarse facial features.
  • Acromegaly
  • Alpha-mannosidosis type II
  • Aspartylglycosaminuria
  • Battaglia Neri syndrome
  • Börjeson–Forssman–Lehmann syndrome
  • Chromosome 6q deletion syndrome
  • Coarse face - hypotonia - constipation
  • Congenital hypothyroidism
  • Dandy–Walker malformation
  • Dyggve–Melchior–Clausen syndrome
  • Fucosidosis type 1
  • Fucosidosis type II
  • Gangliosidosis generalized GM1
  • Gangliosidosis GM1
  • 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
  • Mannosidosis
  • McCune–Albright syndrome
  • Mental retardation
  • Mental retardation
  • 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
  • Nodulosis–arthropathy–osteolysis syndrome
  • Nonkeratan-sulfate-excreting Morquio syndrome
  • Pituitary tumors
  • Resistance to Thyroid Hormone Alpha.
  • Sialidosis type II
  • Sialidosis type II
  • Sialuria syndrome
  • Simpson–Golabi–Behmel syndrome
  • Simpson–Golabi–Behmel syndrome - type 1
  • Skeletal dysplasia - coarse facies - mental retardation
  • Spondyloepimetaphyseal dysplasia
  • Sulfatidosis juvenile
  • Winchester syndrome