Coarse facial features (coarse facies) 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

• Aspartylglycosaminuria

• Battaglia Neri syndrome

• Börjeson–Forssman–Lehmann 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 (Job Syndrome)

• Hypomelanosis of Ito

• I cell disease

• Immunodeficiency due to defect in MAPBP-interacting protein

• Infantile sialic acid storage disorder

• 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)

• Resistance to Thyroid Hormone Alpha.(3)

• 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

See also

• Facies (medical)

References

3. Moran, C., & Chatterjee, K. (2015). Resistance to thyroid hormone due to defective thyroid receptor alpha. Best practice & research. Clinical endocrinology & metabolism, 29(4), 647–657. https://doi.org/10.1016/j.beem.2015.07.007

External links

• https://web.archive.org/web/20090106211640/http://www.mps1disease.com/patient/about/mps_pt_symptom_coarse_facial_features.asp