ヴェイユ・マルケザーニ症候群、マルケサーニ症候群
WordNet
- a pattern of symptoms indicative of some disease
- a complex of concurrent things; "every word has a syndrome of meanings"
- United States mathematician (born in France) (1906-1998) (同)Andre Weil
- French philosopher (1909-1943) (同)Simone Weil
- any of several imperial dynasties of China ruling from 220 to 265 and from 386 to 556 (同)Wei dynasty
- German composer; collaborated with Bertolt Brecht (1900-1950) (同)Kurt Weill
PrepTutorEJDIC
- (疾患の徴候となる一群の)症徴候,症候群 / (事件・社会的状態などのパターンを示す)徴候形態
Wikipedia preview
出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2014/07/22 17:17:11」(JST)
[Wiki en表示]
| Weill–Marchesani syndrome |
| Classification and external resources |
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A six year old female with Weill-Marchesani syndrome, which has caused a dislocated lens.
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| ICD-9 |
759.89 |
| OMIM |
608328 277600 |
| DiseasesDB |
29897 |
A lens dislocation caused by Weill-Marchesani syndrome
Weill–Marchesani syndrome (also known as Spherophakia-brachymorphia syndrome, congenital mesodermal dystrophy, and GEMSS syndrome) is a rare, genetic disorder characterized by short stature; an unusually short, broad head (brachycephaly) and other facial abnormalities; hand defects, including unusually short fingers (brachydactyly); and distinctive eye (ocular) abnormalities. It has been named after ophthalmologists Georges Weill (1866-1952) and Oswald Marchesani (1900-1952) who first described it in 1932 and 1939, respectively.
The eye manifestations typically include unusually small, round lenses of the eyes (spherophakia), which may be prone to dislocating (ectopia lentis), as well as other ocular defects. Due to such abnormalities, affected individuals may have varying degrees of visual impairment, ranging from nearsightedness myopia to blindness. Researchers suggest that Weill–Marchesani syndrome may have autosomal recessive or autosomal dominant inheritance.[1]
Contents
- 1 Diagnosis
- 2 Treatment and prognosis
- 3 See also
- 4 References
- 5 External links
Diagnosis
Diagnosis is made when several characteristic clinical signs are observed. There is no single test to confirm the presence of Weill–Marchesani syndrome. Exploring family history or examining other family members may prove helpful in confirming this diagnosis.
Treatment and prognosis
Eye surgery has been documented to help those with ocular diseases, such as some forms of glaucoma.[2]
However, long term medical management of glaucoma has not proven to be successful for patients with Weill–Marchesani syndrome. Physical therapy and orthopedic treatments are generally prescribed for problems stemming from mobility from this connective tissue disorder. However, this disorder has no cure, and generally, treatments are given to improve quality of life.[3]
See also
References
- ^ "Weill Marchesani Syndrome". WebMD, LLC. Retrieved 24 December 2012.
- ^ Harasymowycz, P; Wilson, R (2005). "Surgical treatment of advanced chronic angle closure glaucoma in Weill-Marchesani syndrome". J Pediatr Ophthalmol Strabismus 41 (5): 295–9. PMID 15478742. 15478742. .
- ^ Anderson, Charles; Anderson, N (2002). NORD Guide to Rare Disorders. USA: Lippincott Williams & Wilkins. pp. 266–267. ISBN 0-7817-3063-5.
External links
- GeneReviews/NCBI/NIH/UW entry on Weill-Marchesani Syndrome
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Cytoskeletal defects
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| Microfilaments |
| Myofilament |
| Actin |
- Hypertrophic cardiomyopathy 11
- Dilated cardiomyopathy 1AA
- DFNA20
- Nemaline myopathy 3
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|
| Myosin |
- Elejalde syndrome
- Hypertrophic cardiomyopathy 1, 8, 10
- Usher syndrome 1B
- Freeman–Sheldon syndrome
- DFN A3, 4, 11, 17, 22; B2, 30, 37, 48
- May-Hegglin anomaly
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| Troponin |
- Hypertrophic cardiomyopathy 7, 2
- Nemaline myopathy 4, 5
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| Tropomyosin |
- Hypertrophic cardiomyopathy 3
- Nemaline myopathy 1
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| Titin |
- Hypertrophic cardiomyopathy 9
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| Other |
- Fibrillin
- Marfan syndrome
- Weill-Marchesani syndrome
- Filamin
- FG syndrome 2
- Boomerang dysplasia
- Larsen syndrome
- Terminal osseous dysplasia with pigmentary defects
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|
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| IF |
| 1/2 |
- Keratinopathy (keratosis, keratoderma, hyperkeratosis): KRT1
- Striate palmoplantar keratoderma 3
- Epidermolytic hyperkeratosis
- IHCM
- KRT2E (Ichthyosis bullosa of Siemens)
- KRT3 (Meesmann juvenile epithelial corneal dystrophy)
- KRT4 (White sponge nevus)
- KRT5 (Epidermolysis bullosa simplex)
- KRT8 (Familial cirrhosis)
- KRT10 (Epidermolytic hyperkeratosis)
- KRT12 (Meesmann juvenile epithelial corneal dystrophy)
- KRT13 (White sponge nevus)
- KRT14 (Epidermolysis bullosa simplex)
- KRT17 (Steatocystoma multiplex)
- KRT18 (Familial cirrhosis)
- KRT81/KRT83/KRT86 (Monilethrix)
- Naegeli–Franceschetti–Jadassohn syndrome
- Reticular pigmented anomaly of the flexures
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| 3 |
- Desmin: Desmin-related myofibrillar myopathy
- Dilated cardiomyopathy 1I
- Peripherin: Amyotrophic lateral sclerosis
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| 4 |
- Neurofilament: Parkinson's disease
- Charcot–Marie–Tooth disease 1F, 2E
- Amyotrophic lateral sclerosis
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| 5 |
- Laminopathy: LMNA
- Mandibuloacral dysplasia
- Dunnigan Familial partial lipodystrophy
- Emery-Dreifuss muscular dystrophy 2
- Limb-girdle muscular dystrophy 1B
- Charcot–Marie–Tooth disease 2B1
- LMNB
- Barraquer–Simons syndrome
- LEMD3
- Buschke–Ollendorff syndrome
- Osteopoikilosis
- LBR
- Pelger-Huet anomaly
- Hydrops-ectopic calcification-moth-eaten skeletal dysplasia
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| Microtubules |
| Kinesin |
- Charcot–Marie–Tooth disease 2A
- Hereditary spastic paraplegia 10
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| Dynein |
- Primary ciliary dyskinesia
- Short rib-polydactyly syndrome 3
- Asphyxiating thoracic dysplasia 3
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| Other |
- Tauopathy
- Cavernous venous malformation
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| Membrane |
- Spectrin: Spinocerebellar ataxia 5
- Hereditary spherocytosis 2, 3
- Hereditary elliptocytosis 2, 3
Ankyrin: Long QT syndrome 4
- Hereditary spherocytosis 1
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| Catenin |
- APC
- Gardner's syndrome
- Familial adenomatous polyposis
- plakoglobin (Naxos syndrome)
- GAN (Giant axonal neuropathy)
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| Other |
- desmoplakin: Striate palmoplantar keratoderma 2
- Carvajal syndrome
- Arrhythmogenic right ventricular dysplasia 8
- plectin: Epidermolysis bullosa simplex with muscular dystrophy
- Epidermolysis bullosa simplex of Ogna
- plakophilin: Skin fragility syndrome
- Arrhythmogenic right ventricular dysplasia 9
- centrosome: PCNT (Microcephalic osteodysplastic primordial dwarfism type II)
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See also: cytoskeletal proteins
- B structural
- perx
- skel
- cili
- mito
- nucl
- sclr
- DNA/RNA/protein synthesis
- membrane
- transduction
- trfk
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UpToDate Contents
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English Journal
- Early fibrillin-1 assembly monitored through a modifiable recombinant cell approach.
- Hubmacher D1, Bergeron E, Fagotto-Kaufmann C, Sakai LY, Reinhardt DP.
- Biomacromolecules.Biomacromolecules.2014 Apr 14;15(4):1456-68. doi: 10.1021/bm5000696. Epub 2014 Mar 7.
- Fibrillin proteins constitute the backbone of extra-cellular macromolecular microfibrils. Mutations in fibrillins cause heritable connective tissue disorders, including Marfan syndrome, dominant Weill-Marchesani syndrome, and stiff skin syndrome. Fibronectin provides a critical scaffold for microfib
- PMID 24559401
- Glaucoma in microspherophakia: presenting features and treatment outcomes.
- Senthil S1, Rao HL, Hoang NT, Jonnadula GB, Addepalli UK, Mandal AK, Garudadari CS.
- Journal of glaucoma.J Glaucoma.2014 Apr-May;23(4):262-7. doi: 10.1097/IJG.0b013e3182707437.
- PURPOSE: To report the clinical features, management, and treatment outcomes of glaucoma in microspherophakia.METHODS: Medical records of 159 eyes of 80 subjects with microspherophakia were reviewed. The clinical features at presentation, presence of glaucoma, methods of treatment, and their outcome
- PMID 23059485
- Leri's pleonosteosis, a congenital rheumatic disease, results from microduplication at 8q22.1 encompassing GDF6 and SDC2 and provides insight into systemic sclerosis pathogenesis.
- Banka S1, Cain SA, Carim S, Daly SB, Urquhart JE, Erdem G, Harris J, Bottomley M, Donnai D, Kerr B, Kingston H, Superti-Furga A, Unger S, Ennis H, Worthington J, Herrick AL, Merry CL, Yue WW, Kielty CM, Newman WG.
- Annals of the rheumatic diseases.Ann Rheum Dis.2014 Jan 17. doi: 10.1136/annrheumdis-2013-204309. [Epub ahead of print]
- OBJECTIVES: Leri's pleonosteosis (LP) is an autosomal dominant rheumatic condition characterised by flexion contractures of the interphalangeal joints, limited motion of multiple joints, and short broad metacarpals, metatarsals and phalanges. Scleroderma-like skin thickening can be seen in some indi
- PMID 24442880
Japanese Journal
- 毛様体低形成を伴ったWeill-Marchesani症候群の1例
- In flame fibrillin-1 gene deletion in autosomal dominant Weill-Marchesani syndrome
Related Links
- Weill-Marchesani syndrome is a disorder of connective tissue. Connective tissue forms the body's supportive framework, providing structure and strength to the muscles, joints, organs, and skin. The major signs and ...
- Weill-Marchesani syndrome (WMS) is a connective tissue disorder characterized by abnormalities of the lens of the eye, proportionate short stature, brachydactyly, and joint stiffness. The ocular problems, typically recognized in ...
Related Pictures
★リンクテーブル★
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- 英
- Marchesani syndrome, Marchesani's syndrome
- 同
- マルケザーニ症候群, 短指趾・小球状水晶体症候群 brachydactyly-spherophakia syndrome、ヴェイユ-マルケザーニ症候群 Weill-Marchesani syndrome WM syndrome、過形成中胚葉性ジストロフィー dystrophia mesodermalis hyperplastica, dysmorphodystrophia mesodermalis congenita
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マルケサニー症候群 : 64 件
マルケサニ症候群 : 64 件
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ワイル・マルケサニー症候群 : 13 件
ワイル・マルケサーニ症候群 : 6 件
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ヴァイル・マルケサニー症候群 : 29 件
ヴァイル・マルケサーニ症候群 : 29 件
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マルケサーニ症候群