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Bare Lymphocyte Syndrome, Type I
Omim
A number sign (#) is used with this entry because bare lymphocyte syndrome type I can be caused by mutation in the TAP2 (170261), TAP1 (170260), or TAPBP (601962) gene. ... Contrary to type II (209920) and type III bare lymphocyte syndromes, which are characterized by the early onset of severe combined immunodeficiency, class I antigen deficiencies are not accompanied by particular pathologic manifestations during the first years of life, although chronic lung disease develops in late childhood. ... Moins-Teisserenc et al. (1999) described 5 patients with a syndrome of chronic necrotizing granulomatous lesions, small-vessel vasculitis, recurrent respiratory-tract infections, and development of bronchiectasis. ... In a 46-year-old Japanese woman originally reported by Maeda et al. (1985) with type I bare lymphocyte syndrome, Furukawa et al. (1999) identified homozygosity for a splice site mutation in intron 1 of the TAP1 gene (170260.0004).
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Bare Lymphocyte Syndrome Type Ii
Medlineplus
Bare lymphocyte syndrome type II (BLS II) is an inherited disorder of the immune system categorized as a form of combined immunodeficiency (CID). ... Because BLS II is the most common and best studied form of a group of related conditions, it is often referred to as simply bare lymphocyte syndrome (BLS). Frequency BLS II is a rare condition. ... Lack of these proteins on lymphocytes impairs the body's immune response to bacteria, viruses, and fungi, leading to persistent infections in individuals with BLS II syndrome. Learn more about the genes associated with Bare lymphocyte syndrome type II CIITA RFX5 RFXANK RFXAP Inheritance Pattern This condition is inherited in an autosomal recessive pattern , which means both copies of the gene in each cell have mutations.
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Zellweger Spectrum Disorder
Medlineplus
This group of conditions includes Zellweger syndrome, neonatal adrenoleukodystrophy (NALD), and infantile Refsum disease. ... Destruction of myelin (demyelination) leads to loss of white matter (leukodystrophy). Children with Zellweger syndrome also develop life-threatening problems in other organs and tissues, such as the liver, heart, and kidneys. ... Affected individuals have distinctive facial features, including a flattened face, broad nasal bridge , and high forehead. Children with Zellweger syndrome typically do not survive beyond the first year of life. ... They may have many of the features of Zellweger syndrome; however, their condition typically progresses more slowly. ... The signs and symptoms of Zellweger syndrome are due to the absence of functional peroxisomes within cells.
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Cerebellar, Ocular, Craniofacial, And Genital Syndrome
Omim
A number sign (#) is used with this entry because of evidence that cerebellar, ocular, craniofacial, and genital syndrome (COFG) is caused by homozygous mutation in the MAB21L1 gene (601280) on chromosome 13q13. Description Cerebellar, ocular, craniofacial, and genital syndrome (COFG) is characterized by moderate to severe developmental delay and impaired intellectual development, severe cerebellar hypoplasia, a noticeably short forehead, medially sparse/flared and laterally extended eyebrows, corneal dystrophy, underdeveloped labioscrotal folds, and tufts of hair extruding from the lactiferous ducts with breast and nipple underdevelopment. ... The authors stated that this was the first report of sibs with absence of scrotum and labia majora, and noted that the additional findings suggested the presence of a genetic syndrome. Kayserili et al. (2016) restudied the 3 Turkish sibs reported by Silay et al. (2013) and described a similarly affected 19-year-old Turkish man. ... Rad et al. (2019) studied 10 patients from 5 unrelated families with a strikingly similar syndromic labioscrotal aplasia phenotype, including the 2 Turkish families (families 4 and 5) reported by Kayserili et al. (2016), who were all homozygous for mutations in the MAB21L1 gene (see, e.g., 601280.0002-601280.0005) that were inherited from unaffected consanguineous parents. Rad et al. (2019) designated the disorder 'cerebellar, ocular, craniofacial, and genital syndrome (COFG).' INHERITANCE - Autosomal recessive HEAD & NECK Head - Microcephaly (in some patients) Face - Short forehead - Low anterior hairline - Long philtrum - Tented philtrum - Smooth philtrum Ears - Low-set ears - Posteriorly rotated ears - Protruding ears - Helical abnormalities Eyes - Horizontal nystagmus - Central corneal opacities, bilateral - Poor vision - Strabismus - Medially sparse, flared eyebrows - Laterally extended eyebrows - Synophrys - Long eyelashes - Buphthalmos - Dry eyes - Retinal degeneration Nose - Anteverted nares CHEST Breasts - Absent or underdeveloped nipples - No discernable areola - Tufts of hair extruding from lactiferous ducts - Widely spaced nipples - Lack of postpubertal breast development GENITOURINARY External Genitalia (Male) - Absent scrotum - Flat, nonrugose perineal skin - Glanular hypospadias External Genitalia (Female) - Absent labia majora - Small labia minora SKIN, NAILS, & HAIR Hair - Hirsutism MUSCLE, SOFT TISSUES - Muscular build - Prominent trapezius muscles NEUROLOGIC Central Nervous System - Intellectual disability, moderate to severe - Neurodevelopmental delay, moderate to severe - Ataxic gait - Cerebellar hypoplasia, nonprogressive - Pontine hypoplasia (in some patients) - Dandy-Walker malformation Peripheral Nervous System - Brisk deep tendon reflexes - Absent plantar reflexes Behavioral Psychiatric Manifestations - Timid, shy, or anxious behavior - Autism spectrum behaviors - Aggressive behavior - Attention-deficit/hyperactivity disorder MISCELLANEOUS - Medial sparseness of eyebrows less prominent with advancing age MOLECULAR BASIS - Caused by mutation in the mab-21 like 1 gene (MAB21L1, 601280.0001 ) ▲ Close
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Alopecia, Neurologic Defects, And Endocrinopathy Syndrome
Omim
A number sign (#) is used with this entry because of evidence that alopecia, neurologic defects, and endocrinopathy syndrome (ANES) is caused by homozygous mutation in the RBM28 gene (612074) on chromosome 7q32. ... Clinical Features Nousbeck et al. (2008) reported a consanguineous family of Arab Moslem descent in which 5 brothers had a complex phenotype characterized by alopecia, neurologic defects, and endocrinopathy (ANE syndrome). The patients had hair loss of variable severity, ranging from complete alopecia to near-normal scalp hair with absence of body hair. ... Spiegel et al. (2010) concluded that ANES is characterized by variable anterior pituitary hormone deficiencies that develop over time, resulting in a syndromic form of combined anterior pituitary hormone deficiency (CPHD; see 613038). Mapping By genomewide linkage analysis of a consanguineous family with ANE syndrome, Nousbeck et al. (2008) identified a 6.45-Mb region of homozygosity on chromosome 7q31.32-7q32 that was shared by all patients (maximum multipoint lod score of 3.64 at marker D7S530). ... Molecular Genetics In affected members of a consanguineous family with ANE syndrome, Nousbeck et al. (2008) identified a homozygous mutation in the RBM28 gene (612074.0001).
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Clark-Baraitser Syndrome
Omim
The authors compared the disorder in both these families to the Atkin-Flaitz syndrome (300431) described by Atkin et al. (1985). ... The obesity in both conditions suggested Prader-Willi syndrome (176270); however, there was never congenital hypotonia, early feeding difficulties, or nocturnal searching for food. ... Tabolacci et al. (2005) suggested that patients diagnosed with Clark-Baraitser syndrome be tested for submicroscopic 22qter deletion. ... The patient had behavior problems when thwarted, which the authors noted had been reported in 3 previous patients with Clark-Baraitser syndrome (see Baraitser et al., 1995 and Monteiro de Pina-Neto and Andreotti de Molfetta, 1998). ... Mendicino et al. (2005) suggested that the mild features in the female relatives of this patient might disclose a possible carrier condition and, in combination with the normal cytogenetic investigations, lend support to X-linked inheritance of this syndrome. INHERITANCE - X-linked GROWTH Height - Tall stature Weight - Obesity HEAD & NECK Head - Macrocephaly Face - Coarse facial features - Prominent forehead - Heavy supraorbital ridges Eyes - Downslanting palpebral fissures Nose - Broad nasal tip - Anteverted nostrils Mouth - Thick lips - Prominent lower lip - Prominent median palatal raphe - Exaggerated median tongue furrow Teeth - Central incisor gap - Microdontia (maxillary lateral incisors) GENITOURINARY Internal Genitalia (Male) - Macroorchidism SKELETAL - Joint laxity Spine - Scoliosis - Hyperkyphosis Limbs - Genu valga - Genu recurvata Hands - Tapered fingers - Short, broad hands NEUROLOGIC Central Nervous System - Mental retardation, moderate to severe - Seizures ▲ Close
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Congenital Diaphragmatic Hernia
Orphanet
A rare developmental defect during embryogenesis which can be a non-syndromic (70%) or syndromic (30%) diaphragmatic malformation characterized by a posterolateral defect of the diaphragm that allows passage of abdominal viscera into the thorax, leading to respiratory insufficiency and persistent pulmonary hypertension. ... One third of cases present with cardiovascular malformations and lesser proportions with skeletal, neural, genitourinary, gastrointestinal or other defects. CDH may be isolated (non-syndromic) or a component of Fryns, Denys-Drash and Donnai-Barrow syndromes as well as certain chromosomal anomalies. ... Genetic testing for associated chromosomal aberrations and syndromes may indicate syndromic CDH if other manifestations are present. ... Management and treatment Termination of pregancy may be offered when chromosomal aberrations and syndromes are present. Fetoscopic endoluminal tracheal occlusion (FETO) with a balloon, particularly for fetuses considered otherwise unviable, has yielded survival rates approaching 50%. ... Post-operative survival rate is 70-80%, up to 90% in certain institutions, particularly in non-syndromic CDH. Right-sided hernias seem to have a worse prognosis and may require more ECMO support.GATA4, ZFPM2, WT1, GATA6, STAT3, FREM1, KCNQ5, FGFRL1, CCL2, EPO, FOXC2, DES, IGF2R, MYOD1, FOXF1, IGF1R, RHOA, PIM1, INSR, WNT11, CCN2, EFNB1, PIGN, RARB, FBN1, LRP2, GPC3, NIPBL, MYRF, FREM2, FRAS1, ARID1A, TRRAP, SMC1A, SMC3, HOXD13, KMT2D, HCCS, HDAC4, KIAA0586, POGZ, NELFA, KCNA1, DPF2, RAP1B, RAP1A, RAD21, PMM2, ABL1, PBX1, SMARCA4, SMARCB1, SMARCC2, SMARCE1, SOX4, KMT2A, SOX11, TRPS1, LFNG, CD96, KDM6A, NSD2, LETM1, RPS28, GLI3, DIS3L2, HDAC8, DHCR7, ARID1B, TRAIP, ARID2, MESP2, STRA6, COX7B, PORCN, CHRNG, CDK8, SLC2A10, UTP23, HES7, RIPPLY2, MCTP2, PGAP3, RSPO2, DLL3, SETD5, FBLN5, NDUFB11, ROBO4, WNT4, SUFU, KIF7, DACT1, EFEMP2, SH2B1, SIN3A, GPC4, FLNA, NR2F2, HTC2, VEGFA, MIR200B, NAT2, CYP2E1, CHDH, TGFB2, EDN1, ACTB, EDNRB, DISP1, SFTPC, SFTPB, TNF, SLIT3, MEF2A, IL10, CRP, RPS19, PCNA, EDNRA, CD44, ACTA2, LHCGR, BMPR2, EPAS1, HLX, GSTM1, ELN, DIH1, DMRT1, SDHA, ASAH2, RGMA, PJA1, ACE, EFNB2, DRD4, ECE1, CHD2, EGF, ELF3, ENG, NOSIP, EPHB4, IGHV1-12, CHMP2B, ERN1, ESR1, FGF7, COL1A1, CRISPLD2, CDH15, NEIL2, TLX1NB, SFTPA2, SFTPA1, PLF, MIR33A, MIR130A, MIRLET7B, AFP, GSTK1, AGER, AGT, PIGW, AGTR1, SOX7, AKT1, ANGPT1, AQP6, SLCO6A1, XIRP2, EGLN3, CASR, DSEL, ARRDC4, CAV1, CD79A, FOXC1, FGF10, FZD2, MTOR, TBX5, TRPC6, LLGL1, TM7SF2, TIMP2, SMAD2, TGFA, NR2F1, TF, TEK, TCTE3, TCF7L2, TCF4, TBX2, FSTL1, TBX1, MIF, SPP1, MKI67, MMP2, MYL2, NFATC2, NOS3, SLC11A2, SLC6A3, SFTPD, RAC1, TRV-CAC1-2, TWIST1, UROD, LEP, EMILIN1, GFER, TUBA1B, GJB2, GPI, EDIL3, ZEB2, NR3C1, STARD8, TBX4, KCNQ4, NRG1, ALDH1A2, FGF18, ITGA8, AXIN2, FOXA2, HOXB9, GDF5, NDST1, NR4A3, IL4, ITGA6, KIF22, LCN2, MIR1307
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Terrien's Marginal Degeneration
Wikipedia
External links [ edit ] Classification D ICD - 9-CM : 371.48 DiseasesDB : 33142 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 This article about an ophthalmic disease is a stub .
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Childhood Cataract
Wikipedia
Further reading [ edit ] Childhood cataracts at NHS Choices Cataracts in Children, Congenital and Acquired at EyeWiki 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 v t e Optical illusions ( list ) Illusions Afterimage Ambiguous image Ames room Barberpole Bezold Café wall Checker shadow Chubb Cornsweet Delboeuf Ebbinghaus Ehrenstein Flash lag Fraser spiral Gravity hill Grid Hering Impossible trident Jastrow Lilac chaser Mach bands McCollough Müller-Lyer Necker cube Orbison Penrose stairs Penrose triangle Peripheral drift Poggendorff Ponzo Rubin vase Sander Schroeder stairs Shepard tables Spinning Dancer Ternus Vertical–horizontal White's Wundt Zöllner Popular culture Op art Trompe-l'œil Spectropia (1864 book) Ascending and Descending (1960 drawing) Waterfall (1961 drawing) The dress (2015 photograph) Related Accidental viewpoint Auditory illusions Tactile illusions Temporal illusion This article about the eye is a stub .
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Joubert Syndrome 26
Omim
A number sign (#) is used with this entry because of evidence that Joubert syndrome-26 (JBTS26) is caused by homozygous mutation in the KIAA0556 gene (616650) on chromosome 16p12. Description Joubert syndrome-26 is an autosomal recessive ciliopathy characterized by global developmental delay associated with cerebellar hypoplasia and variable additional abnormalities, including hypotonia and possibly pituitary abnormalities (summary by Sanders et al., 2015). For a phenotypic description and a discussion of genetic heterogeneity of Joubert syndrome, see 213300. Clinical Features Sanders et al. (2015) reported 3 children, born of consanguineous Saudi Arabian parents, with a mild form of Joubert syndrome. ... Roosing et al. (2016) reported 2 brothers, born to first-cousin Indian parents, with Joubert syndrome. One brother presented at age 2 years with delayed motor and language development and mild ataxia.
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Intraretinal Microvascular Abnormalities
Wikipedia
References [ edit ] External links [ edit ] Classification D ICD - 9-CM : 362.17 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 This article about an ophthalmic disease is a stub .
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Thoracoabdominal Syndrome
Omim
Clinical Features Carmi et al. (1990) suggested X-linked dominant inheritance for a previously undescribed malformation syndrome. The features were diaphragmatic and ventral hernias, hypoplastic lung, and cardiac anomalies such as transposition of the great vessels and patent ductus arteriosus (see 607411). Carmi et al. (1990) pointed out that another syndrome that combines defects of the abdominal wall and the diaphragm is the sporadic pentalogy of Cantrell (Cantrell et al., 1958). ... Maas et al. (2009) described 2 women with Goltz-Gorlin syndrome, or focal dermal hypoplasia (FDH; 305600), who had 1 and 2 female fetuses, respectively, with a phenotype resembling either the limb-body wall complex (see 217100) or the pentalogy of Cantrell. Maas et al. (2009) suggested that some cases with the latter diagnoses may in fact be severely affected fetuses with Goltz-Gorlin syndrome. Smigiel et al. (2011) reported an infant girl with genetically confirmed Goltz-Gorlin syndrome, with findings including sparse hair, clinical anophthalmia, clefting, bifid nose, irregular vermilion of both lips, asymmetric limb malformations, caudal appendage, linear aplastic skin defects, and unilateral hearing loss.
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Eng-Strom Syndrome
Orphanet
A rare disorder characterized by intrauterine growth retardation and intermittent locking of the finger joints. It has been described in two individuals: a mother and her daughter. The mode of transmission is autosomal dominant.
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Stevens-Johnson Syndrome/toxic Epidermal Necrolysis
Medlineplus
Stevens-Johnson syndrome/toxic epidermal necrolysis (SJS/TEN) is a severe skin reaction most often triggered by particular medications. Although Stevens-Johnson syndrome and toxic epidermal necrolysis were once thought to be separate conditions, they are now considered part of a continuum. Stevens-Johnson syndrome represents the less severe end of the disease spectrum, and toxic epidermal necrolysis represents the more severe end. ... About 10 percent of people with Stevens-Johnson syndrome die from the disease, while the condition is fatal in up to 50 percent of those with toxic epidermal necrolysis. ... Learn more about the gene associated with Stevens-Johnson syndrome/toxic epidermal necrolysis HLA-B Inheritance Pattern SJS/TEN is not an inherited condition.
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Palmoplantar Keratoderma, Mutilating, With Periorificial Keratotic Plaques, X-Linked
Omim
A number sign (#) is used with this entry because of evidence that X-linked mutilating palmoplantar keratoderma with periorificial keratotic plaques (Olmsted syndrome) is caused by mutation in the MBTPS2 gene (300294) on chromosome Xp22. One such family has been reported. Description Olmsted syndrome is a rare keratinization disorder characterized by the combination of periorificial keratotic plaques and bilateral palmoplantar transgredient keratoderma. ... An autosomal dominant form of Olmsted syndrome (614594) is caused by mutation in the TRPV3 gene (607066) on chromosome 17p13. ... Female family members did not exhibit any clinical features of Olmsted syndrome, and the affected males did not have features specific to BRESHECK syndrome (see 308205) such as hearing loss, skeletal abnormalities, or dysmorphic features. ... Wang et al. (2014) designated the phenotype in their patient as 'IFAP with Olmsted syndrome-like features' and questioned whether X-linked Olmsted syndrome represented an independent condition or merely a severe form of IFAP.
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Plaid Syndrome
Wikipedia
PLAID syndrome Other names PLCG2-associated antibody deficiency and immune dysregulation PLAID syndrome is inherited via an autosomal dominant manner Specialty Dermatology PLAID syndrome is an inherited condition characterised by antibody deficiency and immune dysregulation , first described in 2012. ... Recurrent infections may lead to the development of bronchiectasis . Genetics [ edit ] The syndrome is caused by mutations in the phospholipase C gamma 2 ( PLCG2 ) gene. [4] [5] This gene is located on the long arm of chromosome 16 (16q23.3). [6] The pathogenesis of this condition is not understood. ... There is a poor antibody response to pneumococcal vaccines.The natural killer cells are low or low normal.Switched memory B cells (IgM, IgD , CD27+ ) may be present in the blood. [ citation needed ] Differential diagnosis [ edit ] Familial cold urticaria [8] Epidemiology [ edit ] This is considered a rare condition, with 30 patients described in the literature up to 2019. [9] History [ edit ] This condition was first described in 2012. [10] The name is an acronym of PLCG2-associated antibody deficiency and immune dysregulation. [ citation needed ] References [ edit ] ^ Milner, JD (August 2015). "PLAID: a Syndrome of Complex Patterns of Disease and Unique Phenotypes" . ... PMID 26206677 . ^ Milner JD (2015) PLAID: a syndrome of complex patterns of disease and unique phenotypes.
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Myopericarditis
Wikipedia
. ^ "Safety Surveillance Cohort Study of Vaccinia Vaccine (ACAM2000®) - Full Text View - ClinicalTrials.gov" . 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 Inflammation Symptoms Flushing (Rubor) Fever (Calor) Swelling (Tumor) Pain (Dolor) Malaise Mechanism Acute Plasma-derived mediators Bradykinin complement C3 C5a MAC coagulation Factor XII Plasmin Thrombin Cell-derived mediators preformed: Lysosome granules biogenic amines Histamine Serotonin synthesized on demand: cytokines IFN-γ IL-8 TNF-α IL-1 eicosanoids Leukotriene B4 Prostaglandins Nitric oxide Kinins Chronic Macrophage Epithelioid cell Giant cell Granuloma Other Acute-phase reaction Vasodilation Increased vascular permeability Exudate Leukocyte extravasation Chemotaxis Tests Full blood count Leukocytosis C-reactive protein Erythrocyte sedimentation rate General Lymphadenopathy List of inflammed body part states This cardiovascular system article is a stub .
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Cor Bovinum
Wikipedia
Schweizerische Rundschau fur Medizin Praxis. 90(45):1964-72, 2001 Nov 8 [article in German] PubMed ID=11817240 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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Post-Maturity Syndrome
Wikipedia
Post-maturity syndrome develops in about 20% of human pregnancies continuing past the expected dates. [1] Ten years ago it was generally held that the postmature fetus ran some risk of dying in the uterus before the onset of labour because of degeneration and calcification of the placenta. [2] Features of post-maturity syndrome include oligohydramnios, meconium aspiration, macrosomia and fetal problems such as dry peeling skin, overgrown nails, abundant scalp hair, visible creases on palms and soles, minimal fat deposition and skin colour become green or yellow due to meconeum staining. ... However, sometimes the placenta involutes, and multiple infarcts and villous degeneration cause placental insufficiency syndrome. In this syndrome, the fetus receives inadequate nutrients and oxygen from the mother, resulting in a thin (due to soft-tissue wasting), small-for-gestational-age, undernourished infant with depleted glycogen stores. ... Otherwise emergency lower segment Caesarean section (LSCS) should be made. The syndrome was first described by Stewart H. ... "Postmaturity—With placental dysfunction: Clinical syndrome and pathologic findings". The Journal of Pediatrics .
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Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Omim
A number sign (#) is used with this entry because of evidence that microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome (MFRG) is caused by homozygous mutation in the CTU2 gene (617057) on chromosome 16q24. Description MFRG is an autosomal recessive syndrome in which microcephaly, unilateral renal agenesis, ambiguous genitalia, and facial dysmorphisms, including severe micrognathia, are observed in most patients. ... Clinical Features From a cohort of 31 consanguineous Saudi families with apparently novel dysmorphic syndromes, Shaheen et al. (2016) identified 3 probands with similar features who were homozygous for the same mutation in the CTU2 gene. ... The 17-month-old boy was in a long-term facility on ventilatory support and feeding by gastrostomy tube, and had shown no developmental progress. The authors designated the syndrome 'DREAM-PL,' for dysmorphic facies, renal agenesis, ambiguous genitalia, microcephaly, polydactyly, and lissencephaly. ... Molecular Genetics From a cohort of 31 consanguineous Saudi families with apparently novel dysmorphic syndromes, Shaheen et al. (2016) identified 3 probands (families 13, 14, and 15) with microcephaly, facial dysmorphism, renal dysgenesis, ambiguous genitalia, and other congenital anomalies who were all homozygous for a synonymous variant in the CTU2 gene (T247T; 617057.0001).