Coarse facial features (coarse facies) is a constellation of facial features that are present in many
inborn errors of metabolism
Inborn errors of metabolism form a large class of genetic diseases involving congenital disorders of enzyme activities. The majority are due to defects of single genes that code for enzymes that facilitate conversion of various substances ( substr ...
.
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.
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Acromegaly
Acromegaly is a disorder that results in excess growth of certain parts of the human body. It is caused by excess growth hormone (GH) after the growth plates have closed. The initial symptom is typically enlargement of the hands and feet. There ...
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Alpha-mannosidosis type II
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Aspartylglycosaminuria
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Battaglia Neri syndrome
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Börjeson–Forssman–Lehmann syndrome
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Chromosome 6q deletion syndrome
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Coarse face - hypotonia - constipation
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Congenital hypothyroidism
Congenital hypothyroidism (CH) is thyroid hormone deficiency present at birth. If untreated for several months after birth, severe congenital hypothyroidism can lead to growth failure and permanent intellectual disability. Infants born with co ...
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Dandy–Walker malformation (with mental retardation basal ganglia disease and seizures)
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Dyggve–Melchior–Clausen syndrome
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Fucosidosis type 1
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Fucosidosis type II
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Gangliosidosis generalized GM1 (type 1)
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Gangliosidosis GM1 (type 3)
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GM1 gangliosidosis
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Goldberg syndrome
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Hyde-Forster-Mccarthy-Berry syndrome
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Hyper IgE (Job Syndrome)
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Hypomelanosis of Ito
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I cell disease
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Immunodeficiency due to defect in MAPBP-interacting protein
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Infantile sialic acid storage disorder
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Mannosidosis (alpha B lysosomal)
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McCune–Albright syndrome
McCune–Albright syndrome is a complex genetic disorder affecting the bone, skin and endocrine systems. It is a mosaic disease arising from somatic activating mutations in '' GNAS'', which encodes the alpha-subunit of the Gs heterotrimeric G ...
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Mental retardation (X-linked - epilepsy - progressive joint contractures - typical face)
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Mental retardation (X-linked Raynaud type)
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Miescher's syndrome
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Morquio syndrome
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Morquio syndrome type A
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Morquio syndrome type B
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MPS 3 C
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MPS 3 D
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Mucolipidosis III
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Mucopolysaccharidosis type 2 Hunter syndrome- mild form
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Mucopolysaccharidosis type 2 Hunter syndrome- severe form
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Mucopolysaccharidosis type 3
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Mucopolysaccharidosis type 6
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Mucopolysaccharidosis type 7 Sly syndrome
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Mucopolysaccharidosis type I Hurler syndrome
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Mucopolysaccharidosis type I Hurler/Scheie syndrome
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Mucopolysaccharidosis type I Scheie syndrome
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Multiple endocrine abnormalities - adenylyl cyclase dysfunction
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Multiple endocrine neoplasia type 2B
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Neuraminidase deficiency (type II juvenile form)
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Nodulosis–arthropathy–osteolysis syndrome
Winchester syndrome is a rare hereditary connective tissue disease described in 1969, of which the main characteristics are short stature, marked contractures of joints, opacities in the cornea, coarse facial features, dissolution of the carpal a ...
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Nonkeratan-sulfate-excreting Morquio syndrome
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Pituitary tumors (adult)
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Sialidosis type II (congenital)
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Sialidosis type II (infantile)
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Sialuria syndrome
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Simpson–Golabi–Behmel syndrome
Simpson–Golabi–Behmel syndrome (SGBS) is a rare inherited congenital disorder that can cause craniofacial, skeletal, vascular, cardiac, and renal abnormalities. There is a high prevalence of cancer associated in those with SGBS which includes ...
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Simpson–Golabi–Behmel syndrome - type 1 (SGBS1)
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Skeletal dysplasia - coarse facies - mental retardation
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Spondyloepimetaphyseal dysplasia (genevieve type)
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Sulfatidosis juvenile (Austin type)
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Winchester syndrome
Winchester syndrome is a rare hereditary connective tissue disease described in 1969, of which the main characteristics are short stature, marked contractures of joints, opacities in the cornea, coarse facial features, dissolution of the carpal a ...
See also
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Facies (medical)
In medical contexts, a facies is a distinctive facial expression or appearance associated with a specific medical condition. The term comes from Latin
Latin ( or ) is a classical language belonging to the Italic languages, Italic branch o ...
References
External links
*https://web.archive.org/web/20090106211640/http://www.mps1disease.com/patient/about/mps_pt_symptom_coarse_facial_features.asp
Facial features
{{Symptom-stub