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

1. ^ "Causes of Coarse facial features". WrongDiagnosis.com. 2010-11-18. http://www.wrongdiagnosis.com/symptoms/coarse_facial_features/causes.htm. Retrieved 2011-01-03. 

External links

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

This medical symptom article is a stub. You can help Wikipedia by expanding it.v · Categories: Facial features Symptom stubs Wikimedia Foundation. 2010. Игры ⚽ Поможем написать реферат Cassytha melantha Coarse function Look at other dictionaries: Mucopolysaccharidosis — MPS I redirects here. For zhuyin or bopomofo, a phonetic system for romanizing Chinese, also known as Mandarin Phonetic Symbols I, see Bopomofo. Mucopolysaccharidosis Classification and external resources ICD 10 E76 ICD 9 …   Wikipedia syndrome — The aggregate of symptoms and signs associated with any morbid process, and constituting together the picture of the disease. SEE ALSO: disease. [G. s., a running together, tumultuous concourse; (in med.) a concurrence of symptoms, fr. syn,… …   Medical dictionary Hypopituitarism — Infobox Disease Name = Hypopituitarism Caption = The pituitary gland on a plate from Gray s Anatomy (1918). The anterior lobe is on the left, and the posterior lobe on the right, both in red. DiseasesDB = 6522 ICD10 = ICD10|E|23|0|e|20,… …   Wikipedia mannosidosis — Congenital deficiency of α mannosidase; associated with coarse facial features, enlarged tongue, mental retardation, kyphosis, radiographic skeletal abnormalities, and vacuolated lymphocytes, with accumulation of mannose in tissues; autosomal …   Medical dictionary Fucosidase — Fucosidase, alpha L 1, tissue, also known as FUCA1, is a human gene.cite web | title = Entrez Gene: FUCA1 fucosidase, alpha L 1, tissue| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene Cmd=ShowDetailView TermToSearch=2517| accessdate = ]… …   Wikipedia Sialidosis — Classification and external resources Sialic acid ICD 10 E77.1 OMIM …   Wikipedia Pseudo-Hurler polydystrophy — Classification and external resources ICD 10 E77.0 ICD 9 272.7 …   Wikipedia I-cell disease — Classification and external resources Mannose 6 phosphate (M6P). I cell disease involves a failure to add M6P to proteins. ICD 10 E …   Wikipedia Coffin-Siris syndrome — Infobox Disease Name = PAGENAME Caption = DiseasesDB = 32018 ICD10 = ICD9 = ICDO = OMIM = 135900 MedlinePlus = eMedicineSubj = eMedicineTopic = MeshID = Coffin Siris Sydrome is a rare genetic disorder which causes mental retardation and absent… …   Wikipedia aspartylglycosaminuria — A lysosomal disorder due to deficiency of aspartoglucosaminidase, resulting in accumulation of aspartlyglycosamine in the urine and spinal fluid; characterized by symptoms usually in the first few months of life, with recurrent infections and… …   Medical dictionary 18+ © Academic, 2000-2024 Contact us: Technical Support, Advertising Dictionaries export, created on PHP, Joomla, Drupal, WordPress, MODx. Mark and share Search through all dictionaries Translate… Search Internet Share the article and excerpts Direct link … Do a right-click on the link above and select “Copy Link”