|
BRWNS
MCID: BRW006
MIFTS: 28
|
Brown Syndrome (BRWNS)
Categories:
Muscle diseases, Rare diseases
|
|
|
|
MalaCards integrated aliases for Brown Syndrome:
Characteristics:OMIM:58
Inheritance:
autosomal dominant
Miscellaneous:
noted in early childhood in most patients some patients have onset in second decade of life HPO:33Classifications: |
|
OMIM
:
58
Brown syndrome, originally described by Brown (1950), is characterized by the inability to elevate the adducted eye actively or passively. There is less elevation deficit with the eye in midposition, and minimal or no deficit in abduction. There can also be divergence on upgaze, downshoot, or widening of the palpebral fissure on adduction, primary hypotropia, and anomalous head posture. Brown syndrome accounts for approximately 2% of strabismus cases. Ten percent of cases are bilateral, and left- and right-sided unilateral cases are equal in frequency. There is no gender predilection (summary by Heidary et al., 2012). (616407)
MalaCards based summary : Brown Syndrome, also known as tendon sheath adherence, superior oblique, is related to mental retardation, x-linked, syndromic, turner type and spastic paraplegia facial cutaneous lesions, and has symptoms including spasm of conjugate gaze, pseudoophthalmoplegia and smooth pursuit deficiency. An important gene associated with Brown Syndrome is PHOX2A (Paired Like Homeobox 2A). Affiliated tissues include eye, and related phenotypes are diplopia and brown anomaly NIH Rare Diseases : 54 Brown syndrome is an eye disorder characterized by abnormalities in the eye's ability to move. Specifically, the ability to look up and in is affected by a problem in the superior oblique muscle/tendon. The condition may be present at birth (congenital) or it may develop following surgery or as a result of inflammation or a problem with development. Some cases are constant while other are intermittent. Treatment depends upon the cause and severity of the movement disorder. Options include close observation, nonsteroidal anti-inflammatory agents like Ibuprofen, corticosteroids, and surgery. Wikipedia : 77 Brown''s syndrome is a rare form of strabismus characterized by limited elevation of the affected eye.... more... |
Human phenotypes related to Brown Syndrome:33
Symptoms via clinical synopsis from OMIM:58Clinical features from OMIM:616407UMLS symptoms related to Brown Syndrome:spasm of conjugate gaze, pseudoophthalmoplegia, smooth pursuit deficiency |
Interventional clinical trials:
|
MalaCards organs/tissues related to Brown Syndrome:42
Eye
|
Articles related to Brown Syndrome:(show top 50) (show all 87)
|
Genes related to Brown Syndrome (0 elite genes): - Elite gene
- Cancer Census gene in COSMIC
|
|
|
|
Search
GEO
for disease gene expression data for Brown Syndrome.
|
|
|
|