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| Coarse facies ： ウィキペディア英語版 |
Coarse facial features
Coarse facial features or "'coarse facies"' describes 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
Heads tend to be longer than normal from front to back, with a bulging forehead. This is because of the earlier than normal or premature fusion of skull bones in an affected individual.
==Causes==
Several conditions are associated with coarse facial features.
*Acromegaly
*Alpha-mannosidosis type II
*Aspartylglycosaminuria
*Battaglia Neri syndrome
*Borjeson 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
*Hypomelanosis of Ito
*I cell disease
*Immunodeficiency due to defect in MAPBP-interacting protein
*Infantile sialic acid storage disorder
*Job syndrome
*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)
*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
抄文引用元・出典: フリー百科事典『 ウィキペディア（Wikipedia）』
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