Coarse facial features
Encyclopedia
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.
Cretinism
Cretinism is a condition of severely stunted physical and mental growth due to untreated congenital deficiency of thyroid hormones usually due to maternal hypothyroidism.-Etymology and use of cretin:...
, 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.- AcromegalyAcromegalyAcromegaly is a syndrome that results when the anterior pituitary gland produces excess growth hormone after epiphyseal plate closure at puberty...
- Alpha-mannosidosis type II
- Aspartylglycosaminuria
- Battaglia Neri syndrome
- Borjeson Syndrome
- Chromosome 6q deletion syndrome
- Coarse face - hypotonia - constipation
- Congenital hypothyroidismCongenital hypothyroidismCongenital hypothyroidism is a condition of thyroid hormone deficiency present at birth. Approximately 1 in 4000 newborn infants has a severe deficiency of thyroid function, while even more have mild or partial degrees. If untreated for several months after birth, severe 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 SyndromeMcCune-Albright syndromeMcCune–Albright syndrome, described in 1937 by Donovan James McCune and Fuller Albright, is a genetic disorder of bones, skin pigmentation and hormonal problems along with premature puberty.-Symptoms:...
- Mental retardation (X-linked - epilepsy - progressive joint contractures - typical face)
- Mental retardation (X-linked Raynaud type)
- Miescher's syndrome
- Morquio syndrome Morquio syndromeMorquio's syndrome is an autosomal recessive mucopolysaccharide storage disease , usually inherited. It is a rare type of birth defect with serious consequences...
- 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 Multiple endocrine neoplasia type 2bMultiple endocrine neoplasia type 3 is a genetic disease that causes multiple tumors on the mouth, eyes, and endocrine glands...
- 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)
- SialuriaSialuriaSialuria is a condition where there is increased Sialic acid in the urine.Types include:* Salla disease * "French type sialuria" , associated with GNE...
syndrome - Simpson-Golabi-Behmel syndrome Simpson-Golabi-Behmel syndromeSimpson–Golabi–Behmel syndrome , also called Bulldog syndrome, Sara Agers syndrome, Golabi–Rosen syndrome, Simpson dysmorphia syndrome or X-linked dysplasia gigantism syndrome , is a rare inherited congenital disorder with widely variable expression, causing craniofacial and other abnormalities.It...
- Simpson-Golabi-Behmel syndrome - type 1 (SGBS1)
- Skeletal dysplasia - coarse facies - mental retardation
- Spondyloepimetaphyseal dysplasia (genevieve type)
- Sulfatidosis juvenile (Austin type)
- Winchester syndromeWinchester syndromeWinchester syndrome in a rare congenital connective tissue disease described in 1969, of which the main characteristics are short stature, marked contractures of joints, opacities in the cornea, a coarse face, dissolution of the carpal and tarsal bones and osteoporosis. Appearances resembled...
External links
- http://www.mps1disease.com/patient/about/mps_pt_symptom_coarse_facial_features.asp
- http://www.wrongdiagnosis.com/