A number sign (#) is used with this entry because of evidence that this phenotype is caused in many cases by mutation in the chromatin-remodeling factor ATRX (300032), which is mutant in the alpha-thalassemia/mental retardation syndrome (301040) and in certain other X-linked mental retardation syndromes. ... In the alpha-thalassemia myelodysplasia syndrome, alpha-thalassemia occurs as an acquired abnormality in association with a multilineage myelodysplasia.
An acquired form of alpha-thalassemia characterized by a myelodysplastic syndrome (MDS) or more rarely a myeloproliferative disease (MPD) associated with hemoglobin H disease (HbH).
Hughes-Stovin syndrome (HSS) is a life-threatening disorder, believed to be a cardiovascular clinical variant manifestation of Behçet's disease (BD; see this term). ... Differential diagnosis The pulmonary manifestations of HSS and BD have been reported to be identical, but the two syndromes can be distinguished on the basis of the absence of mucocutaneous findings in HSS. ... Prognosis As most patients with HSS are diagnosed late in the disease course, the syndrome is associated with significant mortality due to massive hemoptysis resulting from PAA rupture or systemic bronchial artery hypertrophy secondary to ischemia related to the pulmonary artery occlusion.
Hinman syndrome (HS) or non-neurogenic neurogenic bladder is a voiding dysfunction of the bladder of neuropsychological origin that is characterized by functional bladder outlet obstruction in the absence of neurologic deficits. Epidemiology Prevalence is not known. Clinical description The syndrome typically occurs in early to late childhood but some adult cases have been observed. ... Patients present with enuresis, urgent voiding with incontinence, infrequent voiding, intermittency, straining, urinary tract infections and diffuse abdominal pain. Etiology The syndrome is probably caused by acquired behavioral and psychological disorders manifested by bladder dysfunction mimicking neurologic disease.
You can help Wikipedia by expanding it . v t e v t e Adverse drug reactions Antibiotics Penicillin drug reaction Sulfonamide hypersensitivity syndrome Urticarial erythema multiforme Adverse effects of fluoroquinolones Red man syndrome Jarisch–Herxheimer reaction Hormones Steroid acne Steroid folliculitis Chemotherapy Chemotherapy-induced acral erythema Chemotherapy-induced hyperpigmentation Scleroderma-like reaction to taxanes Hydroxyurea dermopathy Exudative hyponychial dermatitis Anticoagulants Anticoagulant-induced skin necrosis Warfarin necrosis Vitamin K reaction Texier's disease Immunologics Adverse reaction to biologic agents Leukotriene receptor antagonist-associated Churg–Strauss syndrome Methotrexate-induced papular eruption Adverse reaction to cytokines Other drugs Anticonvulsant hypersensitivity syndrome Allopurinol hypersensitivity syndrome Vaccine adverse event Eczema vaccinatum Bromoderma Halogenoderma Iododerma General Skin and body membranes Acute generalized exanthematous pustulosis Bullous drug reaction Drug-induced acne Drug-induced angioedema Drug-related gingival hyperplasia Drug-induced lichenoid reaction Drug-induced lupus erythematosus Drug-induced nail changes Drug-induced pigmentation Drug-induced urticaria Stevens–Johnson syndrome Injection site reaction Linear IgA bullous dermatosis Toxic epidermal necrolysis HIV disease-related drug reaction Photosensitive drug reaction Other Drug-induced pseudolymphoma Fixed drug reaction Serum sickness-like reaction
Right side [ edit ] A right ventricular outflow tract obstruction (RVOTO) may be due to a defect in the pulmonic valve , the supravalvar region, the infundibulum , or the pulmonary artery. [1] Pulmonary atresia Pulmonary valve stenosis Hypoplastic right heart syndrome Tetralogy of Fallot Left side [ edit ] A left ventricular outflow tract obstruction (LVOTO) may be due to a defect in the aortic valve , or a defect located at the subvalvar or supravalvar level. [2] Aortic valve stenosis Supravalvar aortic stenosis Coarctation of the aorta Hypoplastic left heart syndrome References [ edit ] ^ Bashore TM (2007). ... CS1 maint: uses authors parameter ( link ) v t e Congenital heart defects Heart septal defect Aortopulmonary septal defect Double outlet right ventricle Taussig–Bing syndrome Transposition of the great vessels dextro levo Persistent truncus arteriosus Aortopulmonary window Atrial septal defect Sinus venosus atrial septal defect Lutembacher's syndrome Ventricular septal defect Tetralogy of Fallot Atrioventricular septal defect Ostium primum Consequences Cardiac shunt Cyanotic heart disease Eisenmenger syndrome Valvular heart disease Right pulmonary valves stenosis insufficiency absence tricuspid valves stenosis atresia Ebstein's anomaly Left aortic valves stenosis insufficiency bicuspid mitral valves stenosis regurgitation Other Underdeveloped heart chambers right left Uhl anomaly Dextrocardia Levocardia Cor triatriatum Crisscross heart Brugada syndrome Coronary artery anomaly Anomalous aortic origin of a coronary artery Ventricular inversion This article about a medical condition affecting the circulatory system is a stub .
Contents 1 Diagnosis 2 Treatment 2.1 Polymyositis and dermatomyositis 2.2 Inclusion-body myositis 3 Epidemiology 4 References 5 External links Diagnosis [ edit ] There are a number of known causes of myopathy, and it is only once these have been ruled out that a clinician will assign an idiopathic inflammatory myopathy (IIM) syndrome to a case. The usual criteria for a diagnosis of PM are weakness in muscles of the head, neck, trunk, upper arms or upper legs; raised blood serum concentrations of some muscle enzymes such as creatine kinase ; unhealthy muscle changes on electromyography ; and biopsy findings of (i) muscle cell degeneration and regeneration and (ii) chronic inflammatory infiltrates in muscle cells.
Budd-Chiari syndrome (BCS) is caused by obstruction of hepatic venous outflow involving either the hepatic veins or the terminal segment of the inferior vena cava. ... Etiology Primary BCS is associated with a combination of factors that lead to a susceptibility for venous thrombosis: primary myeloproliferative syndromes (present in 50% of cases and manifesting as a 'forme fruste' or atypical forms of the disease, but identified through detection of a mutation in the JAK2 gene), Factor V Leiden thrombophilia, protein C deficiency, antiphospholipid syndrome, Behcet disease, paroxysmal nocturnal haemoglobinuria (see these terms), use of oestrogen-progesterone oral contraceptives and inflammatory colitis.
A number sign (#) is used with this entry because it represents a contiguous gene deletion syndrome. Description The chromosome 13q14 deletion syndrome is characterized by retinoblastoma (180200), variable degrees of mental impairment, and characteristic facial features, including high forehead, prominent philtrum, and anteverted earlobes (summary by Caselli et al., 2007). ... Laquis et al. (2002) reported a 9-month-old girl with an X;13 chromosomal translocation with a break point at 13q12.1 and dysmorphic facial features characteristic of 13q syndrome: large anterior fontanel, broad high forehead, hypertelorism, thin lips, anteverted ear lobes, and long philtrum. ... In reply, Schocket et al. (2005) stated that hearing loss was not a typical manifestation of the 13q deletion syndrome and might result from the auditory pigmentary disorder Waardenburg-Shah syndrome (277580), which can be caused by mutation in the endothelin-B receptor gene (131244) on 13q22. Schocket et al. (2005) noted that unilateral findings may result from a contiguous gene deletion syndrome. Cytogenetics Caselli et al. (2007) used array comparative genomic hybridization to analyze the deletion breakpoints in 2 unrelated patients with chromosome 13q14-q21 deletion. ... Caselli et al. (2007) noted that all previous reports of the 13q deletion syndrome had used cytogenetic analysis.
Monosomy 13q14 is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the long arm of chromosome 13, characterized by developmental delay, variable degrees of intellectual disability, retinoblastoma and craniofacial dysmorphism (incl. micro/dolichocephaly, high and broad forehead, prominent eyebrows, thick, anteverted ear lobes, short nose with a broad nasal bridge and bulbous tip, prominent philtrum, large mouth with thin upper lip and thick, everted lower lip).
Sensenbrenner syndrome Other names Cranioectodermal dysplasia This condition is inherited in an autosomal recessive manner Sensenbrenner syndrome (OMIM #218330) is a rare (less than 20 cases reported by 2010) multisystem disease first described by Judith A. ... You can help by adding to it . ( August 2017 ) References [ edit ] ^ Sensenbrenner JA, Dorst JP, Owens RP (1975). "New syndrome of skeletal, dental and hair anomalies". ... "Cranioectodermal Dysplasia, Sensenbrenner syndrome, is a ciliopathy caused by mutations in the IFT122 gene" . ... "C14ORF179 encoding IFT43 is mutated in Sensenbrenner syndrome" . J. Med. Genet . 48 (6): 390–5. doi : 10.1136/jmg.2011.088864 . ... "Exome sequencing identifies WDR35 variants involved in Sensenbrenner syndrome" . Am. J. Hum. Genet . 87 (3): 418–23. doi : 10.1016/j.ajhg.2010.08.004 .
A number sign (#) is used with this entry because of evidence that nonsyndromic congenital nail disorder-10 (NDNC10) can be caused by homozygous mutation in the FZD6 gene (603409) on chromosome 8q22.3-q23.1. Description Nonsyndromic congenital nail disorder-10 is characterized by onychauxis (thick nails), hyponychia, and onycholysis of all nails, with claw-shaped fingernails in some individuals (summary by Frojmark et al., 2011). For a list of other nonsyndromic congenital nail disorders and a discussion of genetic heterogeneity, see NDNC1 (161050). Clinical Features Frojmark et al. (2011) examined 4 affected individuals from 2 unrelated consanguineous Pakistani families segregating autosomal recessive isolated nail dysplasia. Affected members from one of the families had more severe nail dystrophy than affected individuals from the other family, but all showed a variable degree of onychauxis, hyponychia, and onycholysis of fingernails and toenails, with the fingernails having a claw-like appearance.
Description Many types of nonsyndromic congenital nail disorders (NDNC) have been described. Twenty-nail dystrophy (TND), also known as trachyonychia (from the Greek for 'rough nails'), is an autosomal dominant nail dystrophy characterized by excessive longitudinal striations and numerous superficial pits on the nails, which have a distinctive rough sandpaper-like appearance. Occasionally some nails are spared. The slowly progressive condition is usually apparent at birth and may be self-limiting, with spontaneous resolution in some patients (summary by Sehgal, 2007). TND is referred to here as nonsyndromic congenital nail disorder-1 (NCNC1). Genetic Heterogeneity of Nonsyndromic Congenital Nail Disorders Other nonsyndromic congenital nail disorders include koilonychia (NDNC2; 149300); leukonychia (NDNC3; 151600) caused by mutation in the PLCD1 gene (602142) on chromosome 3p22; anonychia/hyponychia (NDNC4; 206800) caused by mutation in the RSPO4 gene (610673) on chromosome 20p13; partial onycholysis with scleronychia (NDNC5; 164800); anonychia of thumbs with onychodystrophy of other nails (NDNC6; 107000); onychodystrophy mapping to chromosome 17p13 (NDNC7; 605779); toenail dystrophy (NDNC8; 607523) caused by mutation in the COL7A1 gene (120120) on chromosome 3p21; onychodystrophy mapping to chromosome 17q25.1-q25.3 (NDNC9; 614149); and onychodystrophy (NDNC10; 614157) caused by mutation in the FZD6 gene (603409) on chromosome 8q22.
A rare isolated nail anomaly characterized by brittle, thin, rough, opaque appearing nails with excessive longitudinal ridging. In a less severe form, the nails retain their luster and present with superficial ridging and multiple small geometric pits. In both varieties, superficial scaling of the nail plate and hyperkeratosis of the cuticles, as well as koilonychia and onychoschizia are observed. Any number of nails may be affected, and fingernails are more often affected than toenails. Spontaneous improvement of the condition may occur.
Twenty-nail dystrophy is a condition that affects the nails of the fingers and toes. The nails become rough, thin, and brittle. They appear similar to sandpaper. It was once thought that all 20 nails will be affected, but any number of nails can become rough and brittle. This condition most commonly occurs in childhood, but it can occur at any age. The exact cause is often unknown, but sometimes appears with other skin conditions such as lichen planus , psoriasis and alopecia areata .
Permanent shortening of a muscle This article needs additional citations for verification . Please help improve this article by adding citations to reliable sources . Unsourced material may be challenged and removed. Find sources: "Muscle contracture" – news · newspapers · books · scholar · JSTOR ( November 2008 ) ( Learn how and when to remove this template message ) Muscle contractures in terminal neurological condition Muscle contractures can occur for many reasons, such as paralysis , muscular atrophy , and forms of muscular dystrophy . Fundamentally, the muscle and its tendons shorten, resulting in reduced flexibility. For example, in the case of partial paralysis (i.e. poliomyelitis ) the loss of strength and muscle control tend to be greater in some muscles than in others, leading to an imbalance between the various muscle groups around specific joints.
The authors suggested that this phenotype may represent a novel mandibulofacial dysostosis syndrome, which they designated 'Bauru type,' inherited in an autosomal dominant manner.