Coarse facial features

Coarse facial features (coarse facies) is 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.
Specialty	Medical 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

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. ^[2]

• 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 (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

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. S2CID   27241573.
2. "Causes of Coarse facial features". WrongDiagnosis.com. 18 November 2010. Retrieved 3 January 2011.

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