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.

## Contents

* 1 Causes
* 2 See also
* 3 References
* 4 External links

## 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. ↑ 1.0 1.1 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. 2010-11-18. http://www.wrongdiagnosis.com/symptoms/coarse_facial_features/causes.htm. Retrieved 2011-01-03.

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

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