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. These typically include unusually small, round lenses of the eyes (spherophakia) that 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.
| Weill–Marchesani syndrome |
| Classification and external resources |
| ICD-9 |
759.89 |
| OMIM |
608328 277600 |
| DiseasesDB |
29897 |
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.
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.
References
- ^ 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.
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Cytoskeletal defects
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| Microfilaments |
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Myofilament
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Actin
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Hypertrophic cardiomyopathy 11 · Dilated cardiomyopathy 1AA · DFNA20 · Nemaline myopathy 3
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Myosin
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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
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Hypertrophic cardiomyopathy 7, 2 · Nemaline myopathy 4, 5
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Tropomyosin
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Hypertrophic cardiomyopathy 3 · Nemaline myopathy 1
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Titin
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Hypertrophic cardiomyopathy 9
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Other
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Fibrillin (Marfan syndrome, Weill-Marchesani syndrome, ) · Filamin (FG syndrome 2, Boomerang dysplasia, Larsen syndrome, Terminal osseous dysplasia with pigmentary defects)
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| IF |
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1/2
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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
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Desmin: Desmin-related myofibrillar myopathy · Dilated cardiomyopathy 1I
GFAP: Alexander disease
Peripherin: Amyotrophic lateral sclerosis
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4
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Neurofilament: Parkinson’s disease · Charcot–Marie–Tooth disease 1F, 2E · Amyotrophic lateral sclerosis
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5
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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 |
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Kinesin
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Charcot–Marie–Tooth disease 2A · Hereditary spastic paraplegia 10
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Dynein
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Primary ciliary dyskinesia · Short rib-polydactyly syndrome 3 · Asphyxiating thoracic dysplasia 3
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Other
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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 (drep, trfc, tscr, tltn) · membrane (icha, slcr, atpa, abct, othr) · transduction (iter, csrc, itra), trfk
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