• Source: Coarse facial features

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 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)
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






External links


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

Kata Kunci Pencarian:

• Coarse facial features
• Maroteaux–Lamy syndrome
• Tetrasomy X
• Mucopolysaccharidosis
• I-cell
• Coffin–Siris syndrome
• Sanfilippo syndrome
• Galactosialidosis
• Sly syndrome
• ATR-X syndrome