Coarse facial features

Coarse facial features refer to a similar change in facial features in the advanced stage of certain conditions like Cretinism, Mucopolysaccharidoses etc, where affected individuals look remarkably similar due to the coarsening of their facial features. These typical coarsening changes include short noses, flat faces and large heads. Their 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.^[1]

• 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

See also

• Facies (medical)

References

External links

• http://www.mps1disease.com/patient/about/mps_pt_symptom_coarse_facial_features.asp
• http://www.wrongdiagnosis.com/