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Ape Hand Deformity
Wikipedia
Retrieved 2009-11-02 . v t e Diseases relating to the peripheral nervous system Mononeuropathy Arm median nerve Carpal tunnel syndrome Ape hand deformity ulnar nerve Ulnar nerve entrapment Froment's sign Ulnar tunnel syndrome Ulnar claw radial nerve Radial neuropathy Wrist drop Cheiralgia paresthetica long thoracic nerve Winged scapula Backpack palsy Leg lateral cutaneous nerve of thigh Meralgia paraesthetica tibial nerve Tarsal tunnel syndrome plantar nerve Morton's neuroma superior gluteal nerve Trendelenburg's sign sciatic nerve Piriformis syndrome Cranial nerves See Template:Cranial nerve disease Polyneuropathy and Polyradiculoneuropathy HMSN Charcot–Marie–Tooth disease Dejerine–Sottas disease Refsum's disease Hereditary spastic paraplegia Hereditary neuropathy with liability to pressure palsy Familial amyloid neuropathy Autoimmune and demyelinating disease Guillain–Barré syndrome Chronic inflammatory demyelinating polyneuropathy Radiculopathy and plexopathy Brachial plexus injury Thoracic outlet syndrome Phantom limb Other Alcoholic polyneuropathy Other General Complex regional pain syndrome Mononeuritis multiplex Peripheral neuropathy Neuralgia Nerve compression syndrome This article about a medical condition affecting the nervous system is a stub .
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Peeling Skin Syndrome Type B
Orphanet
Peeling skin syndrome (PSS) type B, also known as peeling skin disease (PSD), is a rare inflammatory form of ichthyosis (see this term) characterized by superficial patchy peeling of the entire skin with underlying erythroderma, pruritus, and atopy. ... Differential diagnosis Differential diagnosis includes other forms of PSS (acral peeling skin syndrome, peeling skin syndrome type A), epidermolytic ichthyosis, autosomal recessive congenital ichthyosis, staphylococcal scalded skin syndrome, Netherton syndrome, pemphigus foliaceus (see these terms), atopic dermatitis and peeling skin induced by retinoid therapy.CDSN, CHST8, PHF21A, SERPINB8, TGM5, PSORS1C1, IFNG, IL17A, CXCL10, HLA-C, PSS, TNFSF13B, FLG2, TNF, TRAF6, VIP, TLR4, VIPR2, TLR3, TLR2, SSNA1, CNTRL, BTG3, SPINK5, STAT5A, CDC42EP1, SS18L1, RBMS3, IL22, TLR9, DIABLO, FCRL4, FAM167A, TUBA1C, IFNL1, STAT5B, NR0B1, STAT3, SSB, BST2, CD28, CCR8, CST3, CST4, ATN1, EDA, GPI, GTF2I, HLA-A, HLA-B, HLA-DQB1, HLA-DRB1, IFNA1, IFNA13, IL2, IL6, IL10, IL11, IL13, IRAK1, KLRB1, MMP9, MPZ, PMP22, BLK, RO60, CCL25
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Harlequin-Type Ichthyosis
Wikipedia
Genetic skin disease Not to be confused with Harlequin syndrome . Harlequin-type ichthyosis Other names Harlequin ichthyosis, [1] hyosis fetalis, ichthyosis fetalis, keratosis diffusa fetalis, harlequin fetus, [2] : 562 ichthyosis congenita gravior [1] Harlequin-type ichthyosis Specialty Dermatology Symptoms Very thick skin which cracks, abnormal facial features [3] [4] Complications Breathing problems, infection, problems with body temperature, dehydration [4] Usual onset Present from birth [3] Causes Genetic ( autosomal recessive ) [3] Diagnostic method Based on appearance and genetic testing [5] Differential diagnosis Ichthyosis congenita , Lamellar ichthyosis [3] Treatment Supportive care , moisturizing cream [3] Medication Antibiotics , etretinate , retinoids [3] Prognosis Death in the first month is relatively common [6] Frequency 1 in 300,000 [7] Harlequin-type ichthyosis is a genetic disorder that results in thickened skin over nearly the entire body at birth. [4] The skin forms large, diamond-shaped plates that are separated by deep cracks. [4] These affect the shape of the eyelids, nose, mouth, and ears and limit movement of the arms and legs. [4] Restricted movement of the chest can lead to breathing difficulties. [4] These plates fall off over several weeks. [3] Other complications can include premature birth , infection , problems with body temperature, and dehydration . [4] [5] The condition is the most severe form of ichthyosis , a group of genetic disorders characterised by scaly skin. [8] Harlequin-type ichthyosis is caused by mutations in the ABCA12 gene . [4] This gene codes for a protein necessary for transporting lipids out of cells in the outermost layer of skin. [4] The disorder is autosomal recessive and inherited from parents who are carriers. [4] Diagnosis is often based on appearance at birth and confirmed by genetic testing . [5] Before birth, amniocentesis or ultrasound may support the diagnosis. [5] There is no cure for the condition. [8] Early in life, constant supportive care is typically required. [3] Treatments may include moisturizing cream, antibiotics , etretinate or retinoids . [3] [5] Around half of those affected die within the first few months; [7] however, retinoid treatment can increase chances of survival. [9] [8] Children who survive the first year of life often have long-term problems such as red skin , joint contractures and delayed growth. [5] The condition affects around 1 in 300,000 births. [7] It was first documented in a diary entry by Reverend Oliver Hart in America in 1750. [6] Contents 1 Signs and symptoms 2 Cause 3 Diagnosis 4 Treatment 5 Prognosis 6 Epidemiology 7 History 8 Notable cases 9 References 10 External links Signs and symptoms [ edit ] Newborns with harlequin-type ichthyosis present with thick, fissured armor-plate hyperkeratosis . [10] Sufferers feature severe cranial and facial deformities. ... National Institutes of Health v t e Congenital malformations and deformations of integument / skin disease Genodermatosis Congenital ichthyosis / erythrokeratodermia AD Ichthyosis vulgaris AR Congenital ichthyosiform erythroderma : Epidermolytic hyperkeratosis Lamellar ichthyosis Harlequin-type ichthyosis Netherton syndrome Zunich–Kaye syndrome Sjögren–Larsson syndrome XR X-linked ichthyosis Ungrouped Ichthyosis bullosa of Siemens Ichthyosis follicularis Ichthyosis prematurity syndrome Ichthyosis–sclerosing cholangitis syndrome Nonbullous congenital ichthyosiform erythroderma Ichthyosis linearis circumflexa Ichthyosis hystrix EB and related EBS EBS-K EBS-WC EBS-DM EBS-OG EBS-MD EBS-MP JEB JEB-H Mitis Generalized atrophic JEB-PA DEB DDEB RDEB related: Costello syndrome Kindler syndrome Laryngoonychocutaneous syndrome Skin fragility syndrome Ectodermal dysplasia Naegeli syndrome / Dermatopathia pigmentosa reticularis Hay–Wells syndrome Hypohidrotic ectodermal dysplasia Focal dermal hypoplasia Ellis–van Creveld syndrome Rapp–Hodgkin syndrome / Hay–Wells syndrome Elastic / Connective Ehlers–Danlos syndromes Cutis laxa ( Gerodermia osteodysplastica ) Popliteal pterygium syndrome Pseudoxanthoma elasticum Van der Woude syndrome Hyperkeratosis / keratinopathy PPK diffuse : Diffuse epidermolytic palmoplantar keratoderma Diffuse nonepidermolytic palmoplantar keratoderma Palmoplantar keratoderma of Sybert Meleda disease syndromic connexin Bart–Pumphrey syndrome Clouston's hidrotic ectodermal dysplasia Vohwinkel syndrome Corneodermatoosseous syndrome plakoglobin Naxos syndrome Scleroatrophic syndrome of Huriez Olmsted syndrome Cathepsin C Papillon–Lefèvre syndrome Haim–Munk syndrome Camisa disease focal : Focal palmoplantar keratoderma with oral mucosal hyperkeratosis Focal palmoplantar and gingival keratosis Howel–Evans syndrome Pachyonychia congenita Pachyonychia congenita type I Pachyonychia congenita type II Striate palmoplantar keratoderma Tyrosinemia type II punctate : Acrokeratoelastoidosis of Costa Focal acral hyperkeratosis Keratosis punctata palmaris et plantaris Keratosis punctata of the palmar creases Schöpf–Schulz–Passarge syndrome Porokeratosis plantaris discreta Spiny keratoderma ungrouped: Palmoplantar keratoderma and spastic paraplegia desmoplakin Carvajal syndrome connexin Erythrokeratodermia variabilis HID / KID Other Meleda disease Keratosis pilaris ATP2A2 Darier's disease Dyskeratosis congenita Lelis syndrome Dyskeratosis congenita Keratolytic winter erythema Keratosis follicularis spinulosa decalvans Keratosis linearis with ichthyosis congenita and sclerosing keratoderma syndrome Keratosis pilaris atrophicans faciei Keratosis pilaris Other cadherin EEM syndrome immune system Hereditary lymphedema Mastocytosis / Urticaria pigmentosa Hailey–Hailey see also Template:Congenital malformations and deformations of skin appendages , Template:Phakomatoses , Template:Pigmentation disorders , Template:DNA replication and repair-deficiency disorder Developmental anomalies Midline Dermoid cyst Encephalocele Nasal glioma PHACE association Sinus pericranii Nevus Capillary hemangioma Port-wine stain Nevus flammeus nuchae Other/ungrouped Aplasia cutis congenita Amniotic band syndrome Branchial cyst Cavernous venous malformation Accessory nail of the fifth toe Bronchogenic cyst Congenital cartilaginous rest of the neck Congenital hypertrophy of the lateral fold of the hallux Congenital lip pit Congenital malformations of the dermatoglyphs Congenital preauricular fistula Congenital smooth muscle hamartoma Cystic lymphatic malformation Median raphe cyst Melanotic neuroectodermal tumor of infancy Mongolian spot Nasolacrimal duct cyst Omphalomesenteric duct cyst Poland anomaly Rapidly involuting congenital hemangioma Rosenthal–Kloepfer syndrome Skin dimple Superficial lymphatic malformation Thyroglossal duct cyst Verrucous vascular malformation Birthmark v t e Genetic disorder , membrane: ABC-transporter disorders ABCA ABCA1 ( Tangier disease ) ABCA3 ( Surfactant metabolism dysfunction 3 ) ABCA4 ( Stargardt disease 1 , Retinitis pigmentosa 19 ) ABCA12 ( Harlequin-type ichthyosis , Lamellar ichthyosis 2 ) ABCB ABCB4 ( Progressive familial intrahepatic cholestasis 3 ) ABCB7 ( ASAT ) ABCB11 ( Progressive familial intrahepatic cholestasis 2 ) ABCC ABCC2 ( Dubin–Johnson syndrome ) ABCC6 ( Pseudoxanthoma elasticum ) ABCC7 ( Cystic fibrosis ) ABCC8 ( HHF1 , TNDM2 ) ABCC9 ( Dilated cardiomyopathy 1O ) ABCD ABCD1 ( Adrenoleukodystrophy , Adrenomyeloneuropathy ) ABCG ABCG5 ( Sitosterolemia ) ABCG8 ( Gallbladder disease 4, Sitosterolemia ) see also ABC transporters
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Peroxisome Biogenesis Disorder 1b
Omim
Mutations in the PEX1 gene also cause Zellweger syndrome (PBD1A; 214100). Description Peroxisome biogenesis disorder-1B (PBD1B) is characterized by the overlapping phenotypes of neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD), which represent the milder manifestations of the Zellweger syndrome spectrum (ZSS) of peroxisome biogenesis disorders (PBDs). ... This finding can be added to that of elevated very long chain fatty acids to support a generalized peroxisomal dysfunction and relationship to the Zellweger syndrome. Cystic changes in the kidneys and skeletal changes (very large fontanels and cartilaginous calcifications) occur in Zellweger syndrome but not in NALD. ... In the infantile form of Refsum disease, as in Zellweger syndrome, peroxisomes are deficient and peroxisomal functions are impaired (Schram et al., 1986). ... Poll-The et al. (1987) compared IRD with neonatal adrenoleukodystrophy (NALD) and Zellweger syndrome. The studies of Brul et al. (1988) suggested that one form of Zellweger syndrome, the infantile form of Refsum syndrome, and hyperpipecolic acidemia (239400) are allelic; they failed to show complementation after somatic cell fusion. ... They excluded classic Zellweger syndrome from the study and included all patients with biochemically confirmed generalized PBD over 1 year of age.
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Fowler's Syndrome
Wikipedia
Fowler's syndrome Specialty Urologist Fowler's syndrome (non-neurogenic urinary retention) is a disease characterized by urinary retention with abnormal electromyographic activity in young women in the absence of overt neurological disease. [1] Contents 1 Presentation 2 Cause 3 Diagnosis 4 Treatment 5 History 6 References Presentation [ edit ] This condition affects women, often under the age of 30 years. ... The condition is commonly seen in women with Polycystic ovary Syndrome and Endometriosis . [2] It is seen in about one third of women having complaints of urinary retention. [3] They will have no neurological or other urological complaints. [ citation needed ] Alternatively, women with FS can also present with impairment in urination, like obstructed urination or increased frequency of urination but rarely becoming incontinent. [2] Cause [ edit ] The exact cause of Fowler's syndrome is not yet known. ... This technique involves modulation of micturition reflex by stimulating S3 nerve root. [8] [9] History [ edit ] This disease was described first by Fowler et al in 1985. [10] References [ edit ] ^ Wein, Alan J. (2012), "Pathophysiology and Classification of Lower Urinary Tract Dysfunction", Campbell-Walsh Urology , Elsevier, pp. 1834–1846.e1, doi : 10.1016/b978-1-4160-6911-9.00061-x , ISBN 978-1-4160-6911-9 ^ a b Panicker, Jalesh N; Pakzad, Mahreen; Fowler, Clare J (April 2018). "Fowler's syndrome: a primary disorder of urethral sphincter relaxation" (PDF) . ... "Sacral Neuromodulation for Women With Fowler's Syndrome". European Urology . 38 (4): 439–43. doi : 10.1159/000020321 . ... "Abnormal Electromyographic Activity of the Urethral Sphincter, Voiding Dysfunction, and Polycystic Ovaries: A New Syndrome?" . BMJ . 297 (6661): 1436–1438. doi : 10.1136/bmj.297.6661.1436 .
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Fourth Nerve Palsy
Wikipedia
External links [ edit ] Classification D ICD - 10 : H49.1 ICD - 9-CM : 378.53 MeSH : D020432 External resources eMedicine : oph/697 v t e Cranial nerve disease Olfactory Optic Oculomotor Oculomotor nerve palsy Trochlear Trochlear nerve palsy Trigeminal Trigeminal neuralgia Abducens Abducens nerve palsy Facial Central facial palsy Facial nerve paralysis Bell's palsy Vestibulocochlear Glossopharyngeal Vagus Accessory Accessory nerve disorder Hypoglossal Combined syndromes Bulbar palsy Jugular foramen syndrome Cavernous sinus thrombosis v t e Diseases of the human eye Adnexa Eyelid Inflammation Stye Chalazion Blepharitis Entropion Ectropion Lagophthalmos Blepharochalasis Ptosis Blepharophimosis Xanthelasma Ankyloblepharon Eyelash Trichiasis Madarosis Lacrimal apparatus Dacryoadenitis Epiphora Dacryocystitis Xerophthalmia Orbit Exophthalmos Enophthalmos Orbital cellulitis Orbital lymphoma Periorbital cellulitis Conjunctiva Conjunctivitis allergic Pterygium Pseudopterygium Pinguecula Subconjunctival hemorrhage Globe Fibrous tunic Sclera Scleritis Episcleritis Cornea Keratitis herpetic acanthamoebic fungal Exposure Photokeratitis Corneal ulcer Thygeson's superficial punctate keratopathy Corneal dystrophy Fuchs' Meesmann Corneal ectasia Keratoconus Pellucid marginal degeneration Keratoglobus Terrien's marginal degeneration Post-LASIK ectasia Keratoconjunctivitis sicca Corneal opacity Corneal neovascularization Kayser–Fleischer ring Haab's striae Arcus senilis Band keratopathy Vascular tunic Iris Ciliary body Uveitis Intermediate uveitis Hyphema Rubeosis iridis Persistent pupillary membrane Iridodialysis Synechia Choroid Choroideremia Choroiditis Chorioretinitis Lens Cataract Congenital cataract Childhood cataract Aphakia Ectopia lentis Retina Retinitis Chorioretinitis Cytomegalovirus retinitis Retinal detachment Retinoschisis Ocular ischemic syndrome / Central retinal vein occlusion Central retinal artery occlusion Branch retinal artery occlusion Retinopathy diabetic hypertensive Purtscher's of prematurity Bietti's crystalline dystrophy Coats' disease Sickle cell Macular degeneration Retinitis pigmentosa Retinal haemorrhage Central serous retinopathy Macular edema Epiretinal membrane (Macular pucker) Vitelliform macular dystrophy Leber's congenital amaurosis Birdshot chorioretinopathy Other Glaucoma / Ocular hypertension / Primary juvenile glaucoma Floater Leber's hereditary optic neuropathy Red eye Globe rupture Keratomycosis Phthisis bulbi Persistent fetal vasculature / Persistent hyperplastic primary vitreous Persistent tunica vasculosa lentis Familial exudative vitreoretinopathy Pathways Optic nerve Optic disc Optic neuritis optic papillitis Papilledema Foster Kennedy syndrome Optic atrophy Optic disc drusen Optic neuropathy Ischemic anterior (AION) posterior (PION) Kjer's Leber's hereditary Toxic and nutritional Strabismus Extraocular muscles Binocular vision Accommodation Paralytic strabismus Ophthalmoparesis Chronic progressive external ophthalmoplegia Kearns–Sayre syndrome palsies Oculomotor (III) Fourth-nerve (IV) Sixth-nerve (VI) Other strabismus Esotropia / Exotropia Hypertropia Heterophoria Esophoria Exophoria Cyclotropia Brown's syndrome Duane syndrome Other binocular Conjugate gaze palsy Convergence insufficiency Internuclear ophthalmoplegia One and a half syndrome Refraction Refractive error Hyperopia Myopia Astigmatism Anisometropia / Aniseikonia Presbyopia Vision disorders Blindness Amblyopia Leber's congenital amaurosis Diplopia Scotoma Color blindness Achromatopsia Dichromacy Monochromacy Nyctalopia Oguchi disease Blindness / Vision loss / Visual impairment Anopsia Hemianopsia binasal bitemporal homonymous Quadrantanopia subjective Asthenopia Hemeralopia Photophobia Scintillating scotoma Pupil Anisocoria Argyll Robertson pupil Marcus Gunn pupil Adie syndrome Miosis Mydriasis Cycloplegia Parinaud's syndrome Other Nystagmus Childhood blindness Infections Trachoma Onchocerciasis
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Neurocristopathy
Wikipedia
An alteration in the occurrence and timing of these signals leads to a set of syndromes called Neurocristopathies (NCP), which comprises a broad spectrum of congenital malformations affecting an appreciable percentage of newborns. [4] Moreover, since NCC migrate along the embryo, they are susceptible to subtle changes in the environment both during their migration and upon arrival at their destination. ... According to this, some diseases have a single axial origin, i.e, they arise from an alteration in the development of only one NC population (e.g cranial NCP, such as Auriculo Condylar Syndrome). However, other NCP arise from a defect in two or more NC populations (such as the CHARGE syndrome ). Accepted examples of NCP are piebaldism , Waardenburg syndrome , Hirschsprung disease , Ondine's curse (congenital central hypoventilation syndrome), pheochromocytoma , paraganglioma , Merkel cell carcinoma , multiple endocrine neoplasia , neurofibromatosis type I , CHARGE syndrome , familial dysautonomia , DiGeorge syndrome , Axenfeld-Rieger syndrome , Goldenhar syndrome (a.k.a. hemifacial microsomia ), craniofrontonasal syndrome , congenital melanocytic nevus , melanoma , and certain congenital heart defects of the outflow tract.
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Polyphagia
Wikipedia
., Graves' disease , and it has also been noted in Prader-Willi syndrome and other genetic conditions caused by chromosomal anomalies. It is only one of several diagnostic criteria for bulimia and is not by itself classified as an eating disorder. As a symptom of Kleine–Levin syndrome , it is sometimes termed megaphagia. [4] Knocking out vagal nerve receptors has been shown to cause hyperphagia. [5] According to the National Center for Biomedical Information, polyphagia is found in the following conditions: [6] Chromosome 22q13 duplication syndrome Chromosome Xq26.3 duplication syndrome Congenital generalized lipodystrophy type 1 Congenital generalized lipodystrophy type 2 Diabetes mellitus type 1 Familial renal glucosuria Frontotemporal dementia Frontotemporal dementia , ubiquitin -positive Graves' disease Hypotonia - cystinuria syndrome Kleine-Levin syndrome Leptin deficiency or dysfunction Leptin receptor deficiency Luscan-lumish syndrome Macrosomia adiposa congenita Mental retardation, autosomal dominant 1 Obesity, hyperphagia, and developmental delay (OBHD) Pick's disease Prader-Willi syndrome Proopiomelanocortin deficiency Schaaf-yang syndrome Polyphagia in diabetes [ edit ] Diabetes mellitus causes a disruption in the body's ability to transfer glucose from food into energy. ... "Hypothalamic melanocortin signaling and leptin resistance--perspective of therapeutic application for obesity-diabetes syndrome" . Peptides . 30 (7): 1383–6. doi : 10.1016/j.peptides.2009.04.008 .
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Entomophobia
Wikipedia
ISBN 9781610695763 . v t e Mental and behavioral disorders Adult personality and behavior Gender dysphoria Ego-dystonic sexual orientation Paraphilia Fetishism Voyeurism Sexual maturation disorder Sexual relationship disorder Other Factitious disorder Munchausen syndrome Intermittent explosive disorder Dermatillomania Kleptomania Pyromania Trichotillomania Personality disorder Childhood and learning Emotional and behavioral ADHD Conduct disorder ODD Emotional and behavioral disorders Separation anxiety disorder Movement disorders Stereotypic Social functioning DAD RAD Selective mutism Speech Stuttering Cluttering Tic disorder Tourette syndrome Intellectual disability X-linked intellectual disability Lujan–Fryns syndrome Psychological development ( developmental disabilities ) Pervasive Specific Mood (affective) Bipolar Bipolar I Bipolar II Bipolar NOS Cyclothymia Depression Atypical depression Dysthymia Major depressive disorder Melancholic depression Seasonal affective disorder Mania Neurological and symptomatic Autism spectrum Autism Asperger syndrome High-functioning autism PDD-NOS Savant syndrome Dementia AIDS dementia complex Alzheimer's disease Creutzfeldt–Jakob disease Frontotemporal dementia Huntington's disease Mild cognitive impairment Parkinson's disease Pick's disease Sundowning Vascular dementia Wandering Other Delirium Organic brain syndrome Post-concussion syndrome Neurotic , stress -related and somatoform Adjustment Adjustment disorder with depressed mood Anxiety Phobia Agoraphobia Social anxiety Social phobia Anthropophobia Specific social phobia Specific phobia Claustrophobia Other Generalized anxiety disorder OCD Panic attack Panic disorder Stress Acute stress reaction PTSD Dissociative Depersonalization disorder Dissociative identity disorder Fugue state Psychogenic amnesia Somatic symptom Body dysmorphic disorder Conversion disorder Ganser syndrome Globus pharyngis Psychogenic non-epileptic seizures False pregnancy Hypochondriasis Mass psychogenic illness Nosophobia Psychogenic pain Somatization disorder Physiological and physical behavior Eating Anorexia nervosa Bulimia nervosa Rumination syndrome Other specified feeding or eating disorder Nonorganic sleep Hypersomnia Insomnia Parasomnia Night terror Nightmare REM sleep behavior disorder Postnatal Postpartum depression Postpartum psychosis Sexual dysfunction Arousal Erectile dysfunction Female sexual arousal disorder Desire Hypersexuality Hypoactive sexual desire disorder Orgasm Anorgasmia Delayed ejaculation Premature ejaculation Sexual anhedonia Pain Nonorganic dyspareunia Nonorganic vaginismus Psychoactive substances, substance abuse and substance-related Drug overdose Intoxication Physical dependence Rebound effect Stimulant psychosis Substance dependence Withdrawal Schizophrenia , schizotypal and delusional Delusional Delusional disorder Folie à deux Psychosis and schizophrenia-like Brief reactive psychosis Schizoaffective disorder Schizophreniform disorder Schizophrenia Childhood schizophrenia Disorganized (hebephrenic) schizophrenia Paranoid schizophrenia Pseudoneurotic schizophrenia Simple-type schizophrenia Other Catatonia Symptoms and uncategorized Impulse control disorder Klüver–Bucy syndrome Psychomotor agitation Stereotypy
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Orofaciodigital Syndrome Xviii
Omim
A number sign (#) is used with this entry because of evidence that orofaciodigital syndrome-18 (OFD18) is caused by homozygous mutation in the IFT57 gene (606621) on chromosome 3q13. One such family has been reported. Description Orofaciodigital syndrome-18 is characterized by short stature, brachymesophalangy, pre- and postaxial polysyndactyly, and stocky femoral necks, as well as oral anomalies and dysmorphic facial features (Thevenon et al., 2016). ... The authors suggested that the phenotype in this family represented a newly recognized syndrome comprising features of both orofaciodigital (OFD) syndrome and Ellis-van Creveld syndrome (EVC; see 225500). ... Mapping In 2 affected sibs from a consanguineous Indian family with orofaciodigital syndrome, Thevenon et al. (2016) performed homozygosity mapping and identified 2 regions of shared homozygosity on chromosomes 3 and 10 (chr3:104,822,019-111,691,862 and chr10:1,372,501-6,029,726; GRCh37). Molecular Genetics In a 25-year-old man from a consanguineous Indian family with orofaciodigital syndrome, Thevenon et al. (2016) performed exome sequencing and identified homozygosity for a synonymous mutation in the IFT57 gene (K259K; 606621.0001) on chromosome 3, within a region of shared homozygosity with another affected sib.
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Permanent Junctional Reciprocating Tachycardia
Wikipedia
Unlike the accessory pathway in a more common cause of AVRT, Wolff-Parkinson-White syndrome , the accessory pathway in PJRT conducts slowly. ... Texas Heart Institute journal vol. 37,6 (2010): 695-8. v t e Cardiovascular disease (heart) Ischaemic Coronary disease Coronary artery disease (CAD) Coronary artery aneurysm Spontaneous coronary artery dissection (SCAD) Coronary thrombosis Coronary vasospasm Myocardial bridge Active ischemia Angina pectoris Prinzmetal's angina Stable angina Acute coronary syndrome Myocardial infarction Unstable angina Sequelae hours Hibernating myocardium Myocardial stunning days Myocardial rupture weeks Aneurysm of heart / Ventricular aneurysm Dressler syndrome Layers Pericardium Pericarditis Acute Chronic / Constrictive Pericardial effusion Cardiac tamponade Hemopericardium Myocardium Myocarditis Chagas disease Cardiomyopathy Dilated Alcoholic Hypertrophic Tachycardia-induced Restrictive Loeffler endocarditis Cardiac amyloidosis Endocardial fibroelastosis Arrhythmogenic right ventricular dysplasia Endocardium / valves Endocarditis infective endocarditis Subacute bacterial endocarditis non-infective endocarditis Libman–Sacks endocarditis Nonbacterial thrombotic endocarditis Valves mitral regurgitation prolapse stenosis aortic stenosis insufficiency tricuspid stenosis insufficiency pulmonary stenosis insufficiency Conduction / arrhythmia Bradycardia Sinus bradycardia Sick sinus syndrome Heart block : Sinoatrial AV 1° 2° 3° Intraventricular Bundle branch block Right Left Left anterior fascicle Left posterior fascicle Bifascicular Trifascicular Adams–Stokes syndrome Tachycardia ( paroxysmal and sinus ) Supraventricular Atrial Multifocal Junctional AV nodal reentrant Junctional ectopic Ventricular Accelerated idioventricular rhythm Catecholaminergic polymorphic Torsades de pointes Premature contraction Atrial Junctional Ventricular Pre-excitation syndrome Lown–Ganong–Levine Wolff–Parkinson–White Flutter / fibrillation Atrial flutter Ventricular flutter Atrial fibrillation Familial Ventricular fibrillation Pacemaker Ectopic pacemaker / Ectopic beat Multifocal atrial tachycardia Pacemaker syndrome Parasystole Wandering atrial pacemaker Long QT syndrome Andersen–Tawil Jervell and Lange-Nielsen Romano–Ward Cardiac arrest Sudden cardiac death Asystole Pulseless electrical activity Sinoatrial arrest Other / ungrouped hexaxial reference system Right axis deviation Left axis deviation QT Short QT syndrome T T wave alternans ST Osborn wave ST elevation ST depression Strain pattern Cardiomegaly Ventricular hypertrophy Left Right / Cor pulmonale Atrial enlargement Left Right Athletic heart syndrome Other Cardiac fibrosis Heart failure Diastolic heart failure Cardiac asthma Rheumatic fever
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Adopted Child Syndrome
Wikipedia
Adopted child syndrome is a controversial term that has been used to explain behaviors in adopted children that are claimed to be related to their adoptive status. ... Contents 1 History of the term 2 See also 3 References 4 External links History of the term [ edit ] David Kirschner, who coined the term, says that most adoptees are not disturbed and that the syndrome only applies to "a small clinical subgroup". [1] Researchers Brodizinsky, Schechter, and Henig [2] find that in a review of the literature, generally children adopted before the age of six-months fare no differently than children raised with their biological parents. ... Psychologist Betty Jean Lifton , herself an adopted person, has written extensively on psychopathology in adopted people, primarily in Lost and Found: The Adoption Experience , and Journey of the Adopted Self: A Quest for Wholeness and briefly discusses Adopted child syndrome. [1] [3] [4] See also [ edit ] Child abuse Child welfare Attachment disorder Relative outcomes of parenting by biological and adoptive parents References [ edit ] ^ a b Lifton, Betty Jean (1975). ... Retrieved 2007-02-02 . Adopted Child Syndrome page, including bibliography ^ Smith, Jerome. "The Adopted Child Syndrome: A Methodological Perspective" Families in Society 82 no5 491-7 S/O 2001 External links [ edit ] Adopted Child Syndrome page, including bibliography Adoption History: Psychopathology Studies Adoption: Uncharted Waters Official Book Web Site v t e Adoption and foster care Adoption by country Australia France Guatemala Italy Philippines United States South Korea Foster care by country Australia Canada United Kingdom United States Issues Adopted child syndrome Adoption disclosure Adoption home study Adoption reunion registry Adoption tax credit Aging out Child abuse Trafficking of children § Adoption Child laundering Political abuse of psychiatry Closed adoption Cultural variations in adoption Disruption Genealogical bewilderment International adoption Interracial adoption Language of adoption LGBT adoption Open adoption Sealed birth records History of children in the military Laws Access to Adoption Records Act (Ontario) Adoption Information Disclosure Act (Ontario) Adoption and Safe Families Act (US) Christian law of adoption (India) Dima Yakovlev Law (Russia) Foster Care Independence Act (US) Hague Adoption Convention Hindu Adoptions and Maintenance Act (India) Islamic adoptional jurisprudence Putative father registry (US) Uniform Adoption Act (US) History Adoption in ancient Rome Fosterage Controversial violations of rights in adoption or child custody List of international adoption scandals Present-day United States Pre-1978 United States Tennessee Children's Home Society Cambodia Russia Baby Scoop Era Sixties Scoop Home Children Romania Missionaries of Charity, Jharkhand Michael A.
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Hematosalpinx
Wikipedia
See also [ edit ] Hydrosalpinx References [ edit ] External links [ edit ] Classification D ICD - 10 : N83.6 ICD - 9-CM : 620.8 DiseasesDB : 29596 v t e Disorders of bleeding and clotting Coagulation · coagulopathy · Bleeding diathesis Clotting By cause Clotting factors Antithrombin III deficiency Protein C deficiency Activated protein C resistance Protein S deficiency Factor V Leiden Prothrombin G20210A Platelets Sticky platelet syndrome Thrombocytosis Essential thrombocythaemia DIC Purpura fulminans Antiphospholipid syndrome Clots Thrombophilia Thrombus Thrombosis Virchow's triad Trousseau sign of malignancy By site Deep vein thrombosis Bancroft's sign Homans sign Lisker's sign Louvel's sign Lowenberg's sign Peabody's sign Pratt's sign Rose's sign Pulmonary embolism Renal vein thrombosis Bleeding By cause Thrombocytopenia Thrombocytopenic purpura : ITP Evans syndrome TM TTP Upshaw–Schulman syndrome Heparin-induced thrombocytopenia May–Hegglin anomaly Platelet function adhesion Bernard–Soulier syndrome aggregation Glanzmann's thrombasthenia platelet storage pool deficiency Hermansky–Pudlak syndrome Gray platelet syndrome Clotting factor Haemophilia A/VIII B/IX C/XI von Willebrand disease Hypoprothrombinemia/II Factor VII deficiency Factor X deficiency Factor XII deficiency Factor XIII deficiency Dysfibrinogenemia Congenital afibrinogenemia Signs and symptoms Bleeding Bruise Haematoma Petechia Purpura Nonthrombocytopenic purpura By site head Epistaxis Haemoptysis Intracranial haemorrhage Hyphaema Subconjunctival haemorrhage torso Haemothorax Haemopericardium Pulmonary haematoma abdomen Gastrointestinal bleeding Haemobilia Haemoperitoneum Haematocele Haematosalpinx joint Haemarthrosis v t e Female diseases of the pelvis and genitals Internal Adnexa Ovary Endometriosis of ovary Female infertility Anovulation Poor ovarian reserve Mittelschmerz Oophoritis Ovarian apoplexy Ovarian cyst Corpus luteum cyst Follicular cyst of ovary Theca lutein cyst Ovarian hyperstimulation syndrome Ovarian torsion Fallopian tube Female infertility Fallopian tube obstruction Hematosalpinx Hydrosalpinx Salpingitis Uterus Endometrium Asherman's syndrome Dysfunctional uterine bleeding Endometrial hyperplasia Endometrial polyp Endometriosis Endometritis Menstruation Flow Amenorrhoea Hypomenorrhea Oligomenorrhea Pain Dysmenorrhea PMS Timing Menometrorrhagia Menorrhagia Metrorrhagia Female infertility Recurrent miscarriage Myometrium Adenomyosis Parametrium Parametritis Cervix Cervical dysplasia Cervical incompetence Cervical polyp Cervicitis Female infertility Cervical stenosis Nabothian cyst General Hematometra / Pyometra Retroverted uterus Vagina Hematocolpos / Hydrocolpos Leukorrhea / Vaginal discharge Vaginitis Atrophic vaginitis Bacterial vaginosis Candidal vulvovaginitis Hydrocolpos Sexual dysfunction Dyspareunia Hypoactive sexual desire disorder Sexual arousal disorder Vaginismus Urogenital fistulas Ureterovaginal Vesicovaginal Obstetric fistula Rectovaginal fistula Prolapse Cystocele Enterocele Rectocele Sigmoidocele Urethrocele Vaginal bleeding Postcoital bleeding Other / general Pelvic congestion syndrome Pelvic inflammatory disease External Vulva Bartholin's cyst Kraurosis vulvae Vestibular papillomatosis Vulvitis Vulvodynia Clitoral hood or clitoris Persistent genital arousal disorder
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Roifman Syndrome
Omim
A number sign (#) is used with this entry because of evidence that Roifman syndrome (RFMN) is caused by compound heterozygous mutation in the RNU4ATAC gene (601428) on chromosome 2q14. Description Roifman syndrome is a rare autosomal recessive disorder characterized by growth retardation, spondyloepiphyseal dysplasia, cognitive delay, facial dysmorphism, and antibody deficiency (summary by Merico et al., 2015). ... The authors stated that although the presence of noncompaction of the ventricular myocardium in a patient with Roifman syndrome might be a coincidence, the low prevalence of both diseases made the possibility unlikely. ... The authors suggested that Roifman syndrome may be an example of an X-linked mental retardation syndrome. ... Gray et al. (2011) tabulated the features of these sibs and those of the 6 previously reported patients with Roifman syndrome. Inheritance Roifman (1997, 1999) reported 4 affected boys with Roifman syndrome and suggested X-linked recessive inheritance.
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Joubert Syndrome 21
Omim
A number sign (#) is used with this entry because Joubert syndrome-21 (JBTS21) is caused by homozygous or compound heterozygous mutation in the CSPP1 gene (611654) on chromosome 8q13. ... For a phenotypic description and a discussion of genetic heterogeneity of Joubert syndrome, see 213300. Clinical Features Tuz et al. (2014) reported 19 individuals with Joubert syndrome-21; detailed clinical information was available for 18 patients from 14 families. ... Two fetuses from a consanguineous Saudi family with a more severe phenotype reminiscent of Meckel syndrome were found to carry a different homozygous truncating mutation (611654.0009). ... In 6 unrelated patients with Joubert syndrome, Akizu et al. (2014) identified biallelic truncating or splice site mutations in the CSPP1 gene (see, e.g., 611654.0010-611654.0011). ... The patients were ascertained from a larger cohort of 287 probands with Joubert syndrome who underwent whole-exome sequencing.
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Pneumopericardium
Wikipedia
External links [ edit ] Classification D ICD - 10 : I31.9 , P25.3 , S26.8 ICD - 9-CM : 770.2 , 860.1 MeSH : D011026 SNOMED CT : 82542004 v t e Cardiovascular disease (heart) Ischaemic Coronary disease Coronary artery disease (CAD) Coronary artery aneurysm Spontaneous coronary artery dissection (SCAD) Coronary thrombosis Coronary vasospasm Myocardial bridge Active ischemia Angina pectoris Prinzmetal's angina Stable angina Acute coronary syndrome Myocardial infarction Unstable angina Sequelae hours Hibernating myocardium Myocardial stunning days Myocardial rupture weeks Aneurysm of heart / Ventricular aneurysm Dressler syndrome Layers Pericardium Pericarditis Acute Chronic / Constrictive Pericardial effusion Cardiac tamponade Hemopericardium Myocardium Myocarditis Chagas disease Cardiomyopathy Dilated Alcoholic Hypertrophic Tachycardia-induced Restrictive Loeffler endocarditis Cardiac amyloidosis Endocardial fibroelastosis Arrhythmogenic right ventricular dysplasia Endocardium / valves Endocarditis infective endocarditis Subacute bacterial endocarditis non-infective endocarditis Libman–Sacks endocarditis Nonbacterial thrombotic endocarditis Valves mitral regurgitation prolapse stenosis aortic stenosis insufficiency tricuspid stenosis insufficiency pulmonary stenosis insufficiency Conduction / arrhythmia Bradycardia Sinus bradycardia Sick sinus syndrome Heart block : Sinoatrial AV 1° 2° 3° Intraventricular Bundle branch block Right Left Left anterior fascicle Left posterior fascicle Bifascicular Trifascicular Adams–Stokes syndrome Tachycardia ( paroxysmal and sinus ) Supraventricular Atrial Multifocal Junctional AV nodal reentrant Junctional ectopic Ventricular Accelerated idioventricular rhythm Catecholaminergic polymorphic Torsades de pointes Premature contraction Atrial Junctional Ventricular Pre-excitation syndrome Lown–Ganong–Levine Wolff–Parkinson–White Flutter / fibrillation Atrial flutter Ventricular flutter Atrial fibrillation Familial Ventricular fibrillation Pacemaker Ectopic pacemaker / Ectopic beat Multifocal atrial tachycardia Pacemaker syndrome Parasystole Wandering atrial pacemaker Long QT syndrome Andersen–Tawil Jervell and Lange-Nielsen Romano–Ward Cardiac arrest Sudden cardiac death Asystole Pulseless electrical activity Sinoatrial arrest Other / ungrouped hexaxial reference system Right axis deviation Left axis deviation QT Short QT syndrome T T wave alternans ST Osborn wave ST elevation ST depression Strain pattern Cardiomegaly Ventricular hypertrophy Left Right / Cor pulmonale Atrial enlargement Left Right Athletic heart syndrome Other Cardiac fibrosis Heart failure Diastolic heart failure Cardiac asthma Rheumatic fever v t e Conditions originating in the perinatal period / fetal disease Maternal factors complicating pregnancy, labour or delivery placenta Placenta praevia Placental insufficiency Twin-to-twin transfusion syndrome chorion / amnion Chorioamnionitis umbilical cord Umbilical cord prolapse Nuchal cord Single umbilical artery presentation Breech birth Asynclitism Shoulder presentation Growth Small for gestational age / Large for gestational age Preterm birth / Postterm pregnancy Intrauterine growth restriction Birth trauma scalp Cephalohematoma Chignon Caput succedaneum Subgaleal hemorrhage Brachial plexus injury Erb's palsy Klumpke paralysis Affected systems Respiratory Intrauterine hypoxia Infant respiratory distress syndrome Transient tachypnea of the newborn Meconium aspiration syndrome Pleural disease Pneumothorax Pneumomediastinum Wilson–Mikity syndrome Bronchopulmonary dysplasia Cardiovascular Pneumopericardium Persistent fetal circulation Bleeding and hematologic disease Vitamin K deficiency bleeding HDN ABO Anti-Kell Rh c Rh D Rh E Hydrops fetalis Hyperbilirubinemia Kernicterus Neonatal jaundice Velamentous cord insertion Intraventricular hemorrhage Germinal matrix hemorrhage Anemia of prematurity Gastrointestinal Ileus Necrotizing enterocolitis Meconium peritonitis Integument and thermoregulation Erythema toxicum Sclerema neonatorum Nervous system Perinatal asphyxia Periventricular leukomalacia Musculoskeletal Gray baby syndrome muscle tone Congenital hypertonia Congenital hypotonia Infections Vertically transmitted infection Neonatal infection rubella herpes simplex mycoplasma hominis ureaplasma urealyticum Omphalitis Neonatal sepsis Group B streptococcal infection Neonatal conjunctivitis Other Miscarriage Perinatal mortality Stillbirth Infant mortality Neonatal withdrawal
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Bethlem Myopathy
Wikipedia
.), "Collagen Type VI-Related Disorders" , GeneReviews® , Seattle (WA): University of Washington, Seattle, PMID 20301676 , retrieved 2020-10-19 External links [ edit ] Classification D ICD - 10 : G71.2 OMIM : 158810 MeSH : C535436 DiseasesDB : 32019 External resources Orphanet : 610 Image at wustl.edu v t e Diseases of muscle , neuromuscular junction , and neuromuscular disease Neuromuscular- junction disease autoimmune Myasthenia gravis Lambert–Eaton myasthenic syndrome Neuromyotonia Myopathy Muscular dystrophy ( DAPC ) AD Limb-girdle muscular dystrophy 1 Oculopharyngeal Facioscapulohumeral Myotonic Distal (most) AR Calpainopathy Limb-girdle muscular dystrophy 2 Congenital Fukuyama Ullrich Walker–Warburg XR dystrophin Becker's Duchenne Emery–Dreifuss Other structural collagen disease Bethlem myopathy PTP disease X-linked MTM adaptor protein disease BIN1-linked centronuclear myopathy cytoskeleton disease Nemaline myopathy Zaspopathy Channelopathy Myotonia Myotonia congenita Thomsen disease Neuromyotonia / Isaacs syndrome Paramyotonia congenita Periodic paralysis Hypokalemic Thyrotoxic Hyperkalemic Other Central core disease Mitochondrial myopathy MELAS MERRF KSS PEO General Inflammatory myopathy Congenital myopathy v t e Diseases of collagen , laminin and other scleroproteins Collagen disease COL1 : Osteogenesis imperfecta Ehlers–Danlos syndrome, types 1, 2, 7 COL2 : Hypochondrogenesis Achondrogenesis type 2 Stickler syndrome Marshall syndrome Spondyloepiphyseal dysplasia congenita Spondyloepimetaphyseal dysplasia, Strudwick type Kniest dysplasia (see also C2/11 ) COL3 : Ehlers–Danlos syndrome, types 3 & 4 Sack–Barabas syndrome COL4 : Alport syndrome COL5 : Ehlers–Danlos syndrome, types 1 & 2 COL6 : Bethlem myopathy Ullrich congenital muscular dystrophy COL7 : Epidermolysis bullosa dystrophica Recessive dystrophic epidermolysis bullosa Bart syndrome Transient bullous dermolysis of the newborn COL8: Fuchs' dystrophy 1 COL9: Multiple epiphyseal dysplasia 2, 3, 6 COL10: Schmid metaphyseal chondrodysplasia COL11: Weissenbacher–Zweymüller syndrome Otospondylomegaepiphyseal dysplasia (see also C2/11 ) COL17: Bullous pemphigoid COL18: Knobloch syndrome Laminin Junctional epidermolysis bullosa Laryngoonychocutaneous syndrome Other Congenital stromal corneal dystrophy Raine syndrome Urbach–Wiethe disease TECTA DFNA8/12, DFNB21 see also fibrous proteins
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Coronary Artery Aneurysm
Wikipedia
External links [ edit ] Classification D ICD - 10 : I25.4 ICD - 9-CM : 414.11 MeSH : D003323 v t e Cardiovascular disease (heart) Ischaemic Coronary disease Coronary artery disease (CAD) Coronary artery aneurysm Spontaneous coronary artery dissection (SCAD) Coronary thrombosis Coronary vasospasm Myocardial bridge Active ischemia Angina pectoris Prinzmetal's angina Stable angina Acute coronary syndrome Myocardial infarction Unstable angina Sequelae hours Hibernating myocardium Myocardial stunning days Myocardial rupture weeks Aneurysm of heart / Ventricular aneurysm Dressler syndrome Layers Pericardium Pericarditis Acute Chronic / Constrictive Pericardial effusion Cardiac tamponade Hemopericardium Myocardium Myocarditis Chagas disease Cardiomyopathy Dilated Alcoholic Hypertrophic Tachycardia-induced Restrictive Loeffler endocarditis Cardiac amyloidosis Endocardial fibroelastosis Arrhythmogenic right ventricular dysplasia Endocardium / valves Endocarditis infective endocarditis Subacute bacterial endocarditis non-infective endocarditis Libman–Sacks endocarditis Nonbacterial thrombotic endocarditis Valves mitral regurgitation prolapse stenosis aortic stenosis insufficiency tricuspid stenosis insufficiency pulmonary stenosis insufficiency Conduction / arrhythmia Bradycardia Sinus bradycardia Sick sinus syndrome Heart block : Sinoatrial AV 1° 2° 3° Intraventricular Bundle branch block Right Left Left anterior fascicle Left posterior fascicle Bifascicular Trifascicular Adams–Stokes syndrome Tachycardia ( paroxysmal and sinus ) Supraventricular Atrial Multifocal Junctional AV nodal reentrant Junctional ectopic Ventricular Accelerated idioventricular rhythm Catecholaminergic polymorphic Torsades de pointes Premature contraction Atrial Junctional Ventricular Pre-excitation syndrome Lown–Ganong–Levine Wolff–Parkinson–White Flutter / fibrillation Atrial flutter Ventricular flutter Atrial fibrillation Familial Ventricular fibrillation Pacemaker Ectopic pacemaker / Ectopic beat Multifocal atrial tachycardia Pacemaker syndrome Parasystole Wandering atrial pacemaker Long QT syndrome Andersen–Tawil Jervell and Lange-Nielsen Romano–Ward Cardiac arrest Sudden cardiac death Asystole Pulseless electrical activity Sinoatrial arrest Other / ungrouped hexaxial reference system Right axis deviation Left axis deviation QT Short QT syndrome T T wave alternans ST Osborn wave ST elevation ST depression Strain pattern Cardiomegaly Ventricular hypertrophy Left Right / Cor pulmonale Atrial enlargement Left Right Athletic heart syndrome Other Cardiac fibrosis Heart failure Diastolic heart failure Cardiac asthma Rheumatic fever v t e Cardiovascular disease (vessels) Arteries , arterioles and capillaries Inflammation Arteritis Aortitis Buerger's disease Peripheral artery disease Arteriosclerosis Atherosclerosis Foam cell Fatty streak Atheroma Intermittent claudication Critical limb ischemia Monckeberg's arteriosclerosis Arteriolosclerosis Hyaline Hyperplastic Cholesterol LDL Oxycholesterol Trans fat Stenosis Carotid artery stenosis Renal artery stenosis Other Aortoiliac occlusive disease Degos disease Erythromelalgia Fibromuscular dysplasia Raynaud's phenomenon Aneurysm / dissection / pseudoaneurysm torso : Aortic aneurysm Abdominal aortic aneurysm Thoracic aortic aneurysm Aneurysm of sinus of Valsalva Aortic dissection Aortic rupture Coronary artery aneurysm head / neck Intracranial aneurysm Intracranial berry aneurysm Carotid artery dissection Vertebral artery dissection Familial aortic dissection Vascular malformation Arteriovenous fistula Arteriovenous malformation Telangiectasia Hereditary hemorrhagic telangiectasia Vascular nevus Cherry hemangioma Halo nevus Spider angioma Veins Inflammation Phlebitis Venous thrombosis / Thrombophlebitis primarily lower limb Deep vein thrombosis abdomen Hepatic veno-occlusive disease Budd–Chiari syndrome May–Thurner syndrome Portal vein thrombosis Renal vein thrombosis upper limb / torso Mondor's disease Paget–Schroetter disease head Cerebral venous sinus thrombosis Post-thrombotic syndrome Varicose veins Gastric varices Portacaval anastomosis Caput medusae Esophageal varices Hemorrhoid Varicocele Other Chronic venous insufficiency Chronic cerebrospinal venous insufficiency Superior vena cava syndrome Inferior vena cava syndrome Venous ulcer Arteries or veins Angiopathy Macroangiopathy Microangiopathy Embolism Pulmonary embolism Cholesterol embolism Paradoxical embolism Thrombosis Vasculitis Blood pressure Hypertension Hypertensive heart disease Hypertensive emergency Hypertensive nephropathy Essential hypertension Secondary hypertension Renovascular hypertension Benign hypertension Pulmonary hypertension Systolic hypertension White coat hypertension Hypotension Orthostatic hypotension This article about a medical condition affecting the circulatory system is a stub .ITPKC, MICA, GJA1, LDLR, KCNN2, MESP2, PTPN11, NEBL, SETBP1, LDLRAP1, ABCG5, ABCG8, FHAD1, ZNF618, FHAD1-AS1, APOB, PCSK9, MDGA1, ACE, ALB, IL2, IL6, MMP3, CRP, MMP9, IL10, P2RY12, CCR2, THBD, TNF, VWF, NCOA1, TLR6, GRIN3A, PLCB1, ENHO, PLA2G15, TIFAB, MIRLET7I, ACSS2, PEAR1, SULT1E1, ACCS, TBXA2R, AGT, SRC, SOS1, CAD, CD40, CD40LG, CCR5, EDN1, HLA-B, HLA-DOA, HLA-E, IL4, IL17A, ITPR3, KCNH1, LTA, SMAD3, MBL2, MICB, MMP2, MMP12, NOS3, SERPINE1, PLCB4, SRGN, PRKD1, S100A8, CCL2, CCL17, SLC5A5, REN
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Microphthalmia-Brain Atrophy Syndrome
Orphanet
Microphthalmia-brain atrophy (MOBA) syndrome is a rare genetic neurodegenerative disorder characterized by congenital microphthalmia, sunken eyes, blindness, microcephaly, severe intellectual disability, progressive spasticity, and seizures.
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X-Linked Intellectual Disability-Cubitus Valgus-Dysmorphism Syndrome
Orphanet
X-linked intellectual disability-cubitus valgus-dysmorphism syndrome is characterised by moderate intellectual deficit, marked cubitus valgus , mild microcephaly, a short philtrum, deep-set eyes, downslanting palpebral fissures and multiple nevi.