Acute motor axonal neuropathy Other names Acute pure motor Guillain-Barré syndrome Specialty Neurology Acute motor axonal neuropathy (AMAN) is a variant of Guillain–Barré syndrome . ... Several of the paralysis patients were found to have antibodies to C. jejuni and anti-GD1a antibodies, suggesting a link between the pathogen and the disease. [1] In 2015, Zika virus was linked to AMAN. [2] Diagnosis [ edit ] The syndrome typically presents as a progressive flaccid symmetric paralysis with areflexia , often causing respiratory failure. ... You can help by adding to it . ( October 2017 ) History [ edit ] AMAN, also known as Chinese Paralytic Syndrome , [3] was first described by a group of Johns Hopkins University and University of Pennsylvania neurologists in collaboration with neurologists from the Second Teaching Hospital of Hebei Medical School and Beijing Children's Hospital . [4] In 1991, Guy Mckhann, Jack Griffin, Dave Cornblath and Tony Ho from Johns Hopkins University and Arthur Asbury from University of Pennsylvania visited China to study a mysterious epidemic of paralytic syndrome occurring in northern China. ... In contrast, the common form of Guillain–Barré syndrome in the West often presents with sensory loss and demyelination on electrophysiology testing and is more common in adults. ... PMID 1679153 . ^ Griffin JW, Li CY, Ho TW, Xue P, Macko C, Gao CY, Yang C, Tian M, Mishu B, Cornblath DR, et al. (1995). "Guillain–Barré syndrome in northern China: The spectrum of neuropathological changes in clinically defined cases".

CHAPLE Syndrome Specialty Medical genetics Symptoms Gastrointestinal symptoms, edema, malnutrition, hypoalbuminemia, hypogammaglobulinemia, intestinal lymphangiectasia [1,2] Duration Lifelong Causes Genetic (autosomal recessive) Diagnostic method Genetic testing Treatment Eculizumab CD55 deficiency , also called DAF deficiency or CHAPLE syndrome , is a rare genetic disorder of the immune system . ... Symptoms can include abdominal pain , nausea , vomiting , diarrhea , loss of appetite , weight loss , and edema . [1] People also have chronic malabsorption , which causes deficiencies in iron , ferritin , calcium , magnesium , folate , vitamin D and vitamin B12 . [1] Some patients may have recurrent respiratory infections associated with hypogammaglobulinemia . [1] Severe thrombotic vascular occlusions may also be found among these patients. [1] Genetics [ edit ] CHAPLE Syndrome has an autosomal recessive pattern of inheritance CHAPLE syndrome is caused by mutations of the complement regulator CD55 gene leading to a loss of protein expression. [1] Inheritance [ edit ] CHAPLE syndrome is primarily inherited in an autosomal recessive manner. [1] This means that usually a child inherits a copy of the mutated gene from both parents, resulting in a homozygous defect. [2] Pathophysiology [ edit ] CHAPLE syndrome is characterized by complement-mediated autoimmune hemolysis and paroxysmal nocturnal hemoglobinuria . ... When CD55 is absent, the complement system attacks red blood cells and causes them to be destroyed (hemolysis). [3] [4] [5] Diagnosis [ edit ] CHAPLE syndrome patients are generally diagnosed through a combination of clinical presentation, histology, and genetic testing. ... PMID 26582375 . ^ Ozen A (January 2019). "CHAPLE syndrome uncovers the primary role of complement in a familial form of Waldmann's disease".

External links [ edit ] Classification D ICD - 9-CM : 370.24 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

CS1 maint: extra text: authors list ( link ) External links [ edit ] Classification D ICD - 10 : H21.4 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 Authority control TA98 : A15.2.03.036 This article about the eye is a stub .

Survey of Ophthalmology . 63 (5): 694–699. doi : 10.1016/j.survophthal.2018.04.001 . 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 the eye is a stub .

A number sign (#) is used with this entry because of evidence that Ververi-Brady syndrome (VERBRAS) is caused by heterozygous mutation in the QRICH1 gene (617387) on chromosome 3p21. Description Ververi-Brady syndrome is characterized by mild developmental delay, mildly impaired intellectual development and speech delay, and mild dysmorphic facial features. ... Lui et al. (2019) identified 2 unrelated children, an 8-year-old girl and a 11 year-old boy, with features of Ververi-Brady syndrome, including short stature, irregular growth plates of the proximal phalanges, developmental delay, and mild dysmorphic facial features. ... Molecular Genetics In 3 unrelated patients with Ververi-Brady syndrome (VERBRAS; 617982), Ververi et al. (2018) identified de novo heterozygous nonsense or frameshift mutations in the QRICH1 gene (617387.0001-617387.0003). ... Lui et al. (2019) also identified an 11-year-old boy in the DECIPHER database (Firth et al., 2009) with features of VERBRAS syndrome and a de novo nonsense mutation in the QRICH1 gene (R511X).

National Cancer Institute document: "Dictionary of Cancer Terms" . 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

Contents 1 Symptoms 2 Cause 3 Diagnosis 3.1 Types of NMD syndromes 4 Treatment 5 Prognosis 6 References Symptoms [ edit ] Symptoms vary according to the abnormality, but often feature poor muscle tone and motor function, seizures , developmental delays , mental retardation , failure to grow and thrive, difficulties with feeding, swelling in the extremities, and a smaller than normal head. ... Abnormal migration ultimately results in abnormal gyral formation. [4] Diagnosis [ edit ] Types of NMD syndromes [ edit ] More than 25 syndromes resulting from abnormal neuronal migration have been described. Among them are syndromes with several different patterns of inheritance; genetic counseling thus differs greatly between syndromes. [2] Lissencephaly Microlissencephaly Schizencephaly Porencephaly Pachygyria Polymicrogyria Agyria Macrogyria Microgyria Micropolygyria Grey matter heterotopia Agenesis of the corpus callosum Agenesis of the cranial nerves Band heterotopias Focal cortical dysplasia , Miller–Dieker syndrome , muscle-brain-eye syndrome [ de ] , Fukuyama congenital muscular dystrophy and Walker–Warburg syndrome are genetic disorders associated with lissencephaly. [5] Treatment [ edit ] Treatment is symptomatic and may include anti-seizure medication and special or supplemental education consisting of physical , occupational and speech therapies . [2] Prognosis [ edit ] The prognosis for children with NMDs varies depending on the specific disorder and the degree of brain abnormality and subsequent neurological signs and symptoms. [2] References [ edit ] ^ Sarnat, Harvey (1992).

External links [ edit ] Classification D ICD - 10 : H16.2 ICD - 9-CM : 370.40 MeSH : D007637 Look up keratoconjunctivitis in Wiktionary, the free dictionary. eMedicine – on Atopic keratoconjunctivitis eMedicine – on Epidemic keratoconjunctivitis 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 the eye is a stub .

External links [ edit ] Classification D ICD - 10 : H34.2 ICD - 9-CM : 362.33 DiseasesDB : 31269 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 Symptoms and signs relating to the eye Adnexa lacrimal : Schirmer's test eyelid : Abadie's sign of exophthalmic goiter Boston's sign Dalrymple's sign Stellwag's sign Globe pupil : Argyll Robertson pupils Adie pupil Marcus Gunn pupil cornea : Fleischer ring Kayser–Fleischer ring Hudson–Stahli line iris : Brushfield spots Lisch nodule conjunctiva : Bitot's spots Arlt's line retina : Hollenhorst plaque Roth's spot Fuchs spot others: Alexander's law Hirschberg test Siegrist streaks This medical sign article is a stub .

External links [ edit ] Classification D ICD - 10 : H50.5 ICD - 10-CM : H50.52 ICD - 9-CM : 378.42 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 the eye is a stub .

Find sources: "Bhaskar–Jagannathan syndrome" – news · newspapers · books · scholar · JSTOR ( June 2012 ) ( Learn how and when to remove this template message ) This article needs attention from an expert on the subject . ... Please help to improve this article by introducing more precise citations. ( July 2018 ) ( Learn how and when to remove this template message ) ( Learn how and when to remove this template message ) Bhaskar–Jagannathan syndrome Specialty Genetic disorder Bhaskar–Jagannathan syndrome is an extremely rare genetic disorder and there is a limited amount of information related to it. ... Treatment [ edit ] Treatment for this rare genetic disorder can be physical therapy , there have been antibiotics found to be effective, and surgery has been found to be another solution. [1] [2] References [ edit ] ^ Bhaskar Jagannathan Syndrome (2012). In IAMUNWELL. Retrieved April 5, 2012, from http://www.iamunwell.com/Diseases-Alphabet-B/bhaskar-jagannathan-syndrome.html Archived 2012-08-13 at the Wayback Machine ^ Bhaskar Jagannathan syndrome .

A number sign (#) is used with this entry because of evidence that Kleefstra syndrome-2 (KLEFS2) is caused by heterozygous mutation in the KMT2C gene (606833) on chromosome 7q36. Description Kleefstra syndrome-2 is an autosomal dominant neurodevelopmental disorder characterized by delayed psychomotor development, variable intellectual disability, and mild dysmorphic features (summary by Koemans et al., 2017). For a discussion of genetic heterogeneity of Kleefstra syndrome, see KLEFS1 (610253). Clinical Features Kleefstra et al. (2012) reported a girl with Kleefstra syndrome-2. ... Molecular Genetics In 4 of 9 EHMT1 (607001) mutation-negative patients with core features of Kleefstra syndrome-1 (KLEFS1; 610253) but otherwise heterogeneous phenotypes, Kleefstra et al. (2012) identified mutations in 4 functionally related genes, KMT2C (606833.0001), MBD5 (611472), SMARCB1 (601607), and NR1I3 (603881).

External links [ edit ] Classification D MeSH : D007642 v t e Cutaneous keratosis, ulcer, atrophy, and necrobiosis Epidermal thickening keratoderma : Keratoderma climactericum Paraneoplastic keratoderma Acrokeratosis paraneoplastica of Bazex Aquagenic keratoderma Drug-induced keratoderma psoriasis Keratoderma blennorrhagicum keratosis : Seborrheic keratosis Clonal seborrheic keratosis Common seborrheic keratosis Irritated seborrheic keratosis Seborrheic keratosis with squamous atypia Reticulated seborrheic keratosis Dermatosis papulosa nigra Keratosis punctata of the palmar creases other hyperkeratosis : Acanthosis nigricans Confluent and reticulated papillomatosis Callus Ichthyosis acquisita Arsenical keratosis Chronic scar keratosis Hyperkeratosis lenticularis perstans Hydrocarbon keratosis Hyperkeratosis of the nipple and areola Inverted follicular keratosis Lichenoid keratosis Multiple minute digitate hyperkeratosis PUVA keratosis Reactional keratosis Stucco keratosis Thermal keratosis Viral keratosis Warty dyskeratoma Waxy keratosis of childhood other hypertrophy: Keloid Hypertrophic scar Cutis verticis gyrata Necrobiosis / granuloma Necrobiotic/palisading Granuloma annulare Perforating Generalized Subcutaneous Granuloma annulare in HIV disease Localized granuloma annulare Patch-type granuloma annulare Necrobiosis lipoidica Annular elastolytic giant-cell granuloma Granuloma multiforme Necrobiotic xanthogranuloma Palisaded neutrophilic and granulomatous dermatitis Rheumatoid nodulosis Interstitial granulomatous dermatitis / Interstitial granulomatous drug reaction Foreign body granuloma Beryllium granuloma Mercury granuloma Silica granuloma Silicone granuloma Zirconium granuloma Soot tattoo Tattoo Carbon stain Other/ungrouped eosinophilic dermatosis Granuloma faciale Dermis / localized CTD Cutaneous lupus erythematosus chronic: Discoid Panniculitis subacute : Neonatal ungrouped: Chilblain Lupus erythematosus–lichen planus overlap syndrome Tumid Verrucous Rowell's syndrome Scleroderma / Morphea Localized scleroderma Localized morphea Morphea–lichen sclerosus et atrophicus overlap Generalized morphea Atrophoderma of Pasini and Pierini Pansclerotic morphea Morphea profunda Linear scleroderma Atrophic / atrophoderma Lichen sclerosus Anetoderma Schweninger–Buzzi anetoderma Jadassohn–Pellizzari anetoderma Atrophoderma of Pasini and Pierini Acrodermatitis chronica atrophicans Semicircular lipoatrophy Follicular atrophoderma Linear atrophoderma of Moulin Perforating Kyrle disease Reactive perforating collagenosis Elastosis perforans serpiginosa Perforating folliculitis Acquired perforating dermatosis Skin ulcer Pyoderma gangrenosum Other Calcinosis cutis Sclerodactyly Poikiloderma vasculare atrophicans Ainhum / Pseudo-ainhum v t e Skin cancer of the epidermis Tumor Carcinoma BCC Forms Aberrant Cicatricial Cystic Fibroepithelioma of Pinkus Infltrative Micronodular Nodular Pigmented Polypoid Pore-like Rodent ulcer Superficial Nevoid basal cell carcinoma syndrome SCC Forms Adenoid Basaloid Clear cell Signet-ring-cell Spindle-cell Marjolin's ulcer Bowen's disease Bowenoid papulosis Erythroplasia of Queyrat Actinic keratosis Adenocarcinoma Aggressive digital papillary adenocarcinoma Extramammary Paget's disease Ungrouped Merkel cell carcinoma Microcystic adnexal carcinoma Mucinous carcinoma Primary cutaneous adenoid cystic carcinoma Verrucous carcinoma Malignant mixed tumor Benign tumors Acanthoma Forms Large cell Fissuring Clear cell Epidermolytic Melanoacanthoma Pilar sheath acanthoma Seboacanthoma Seborrheic keratosis Warty dyskeratoma Keratoacanthoma Generalized eruptive Keratoacanthoma centrifugum marginatum Multiple Solitary Wart Verruca vulgaris Verruca plana Plantar wart Periungual wart Other Epidermal nevus Syndromes Epidermal nevus syndrome Schimmelpenning syndrome Nevus comedonicus syndrome Nevus comedonicus Inflammatory linear verrucous epidermal nevus Linear verrucous epidermal nevus Pigmented hairy epidermal nevus syndrome Systematized epidermal nevus Phakomatosis pigmentokeratotica Other nevus Nevus unius lateris Patch blue nevus Unilateral palmoplantar verrucous nevus Zosteriform speckled lentiginous nevus Ungrouped Cutaneous horn This cutaneous condition article is a stub .

A number sign (#) is used with this entry because of evidence that presynaptic congenital myasthenic syndrome-7 (CMS7) is caused by heterozygous mutation in the SYT2 gene (600104) on chromosome 1q32. Description Congenital myasthenic syndromes (CMS) are a group of inherited disorders affecting the neuromuscular junction (NMJ). ... Clinical Features Herrmann et al. (2014) reported 2 unrelated multigenerational families with congenital myasthenic syndrome. The first family was from the United States and contained 4 patients who presented in early childhood with foot deformities, including pes cavus and hammertoes. ... Repetitive nerve stimulation resulted in large decrements of the motor amplitude, consistent with myasthenic syndrome, and maximum voluntary contraction resulted in posttetanic potentiation lasting up to 60 minutes. ... Inheritance The transmission pattern of presynaptic congenital myasthenic syndrome in the families reported by Herrmann et al. (2014) was consistent with autosomal dominant inheritance.

Mondor's disease Other names Mondor's syndrome of superficial thrombophlebitis [1] Play media Clot seen on ultrasound of the dorsal penile vein [2] Specialty Cardiology Mondor's disease is a rare condition which involves thrombophlebitis of the superficial veins of the breast and anterior chest wall. It sometimes occurs in the arm or penis . [3] In axilla, this condition is known as axillary web syndrome. [4] Patients with this disease often have abrupt onset of superficial pain, with possible swelling and redness of a limited area of their anterior chest wall or breast. ... ISBN 978-0-7216-2921-6 . ^ Shoham Y, Rosenberg N, Krieger Y, Silberstein E, Arnon O, Bogdanov-Berezovsky A (December 2011). "[Axillary web syndrome—a variant of Mondor's disease, following excision of an accessory breast]". ... Chir. 1271, 1939 External links [ edit ] Classification D ICD - 10 : I80.8 ( ILDS I80.81) ICD - 9-CM : 451.89 DiseasesDB : 32183 External resources eMedicine : derm/909 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

In many farsighted people, this vision problem is not part of a larger genetic syndrome. However, farsightedness (especially high hyperopia) can be a feature of other disorders with a genetic cause. Genetic conditions with farsightedness as a characteristic feature include microphthalmia, achromatopsia, aniridia, Leber congenital amaurosis, X-linked juvenile retinoschisis, Senior-Løken syndrome, Gorlin-Chaudhry-Moss syndrome, Down syndrome, and fragile X syndrome. ... When farsightedness is a feature of a genetic syndrome, it follows the inheritance pattern of that syndrome.

A number sign (#) is used with this entry because of evidence that colobomatous macrophthalmia with microcornea (MACOM) is a contiguous gene deletion syndrome resulting from an approximately 22-kb heterozygous deletion on chromosome 2p22.2, involving the CRIM1 (606189) and FEZ2 (604826) genes. ... The sons of the proposita's sister presented an incomplete and unilateral pattern of these defects, suggesting variability in the expression of the syndrome. Pallotta et al. (1998) described a second family in which the syndrome was transmitted through 4 generations with no male-to-male transmission. ... In mice homozygous for loss of Crim1 in the head surface ectoderm and ocular mesenchyme, the authors observed morphologic changes overlapping the developmental eye anomalies present in patients with MACOM syndrome, including microcornea, a shallow anterior chamber, and a narrower eye without diminished axial diameter. Beleggia et al. (2015) concluded that CRIM1 is the causative gene for MACOM syndrome. No causative mutation or deletion/duplication involving CRIM1 was identified in the index patient from the family with MACOM described by Bateman and Maumenee (1984), suggesting further genetic heterogeneity of MACOM syndrome. INHERITANCE - Autosomal dominant HEAD & NECK Eyes - Nystagmus - Strabismus - Myopia - Reduced visual acuity - Microcornea - Moderate flattening of corneal curvature - Macrophthalmia - Pupillary dislocation - Coloboma of iris, choroid, and retina - Diffuse atrophy of retinal pigment epithelium - Macular atrophy - Strands of uveal tissue covering trabecular meshwork (in some patients) - Elevated intraocular pressure (in some patients) MISCELLANEOUS - Severity of reduced vision ranges from 20/50 to light perception only - Coloboma involves optic nerve in most patients MOLECULAR BASIS Contiguous gene syndrome caused by deletion of 22kb on 2p22.2 including the CRIM1 ( 606189 ) and FEZ2 ( 604826 ) genes ▲ Close

A number sign (#) is used with this entry because it represents a contiguous gene syndrome involving duplication of chromosome Xp11.23-p11.22. Clinical Features Giorda et al. (2009) described a syndrome characterized by borderline to severe mental retardation, speech delay, and EEG abnormalities associated with a microduplication at chromosome Xp11.23-p11.22. ... Cytogenetics Using array-based genomic hybridization to screen 2,400 individuals with isolated or syndromic mental retardation for copy number variation, Giorda et al. (2009) identified 8 (0.33%) unrelated individuals, 2 males and 6 females, with a microduplication at chromosome Xp11.23-p11.22. ... INHERITANCE - X-linked dominant GROWTH Weight - Excessive weight SKELETAL Feet - Pes cavus - Pes planus - Fifth toe hypoplasia - Syndactyly NEUROLOGIC Central Nervous System - Mental retardation, borderline to severe - Poor speech articulation - Subclinical absence seizures - EEG abnormalities - Diffuse paroxysmal discharges - Focal paroxysmal discharges - Continuous spike-wave discharges during sleep Behavioral Psychiatric Manifestations - Stubbornness - Shyness - Autistic-like features VOICE - Hoarse voice - Nasal voice ENDOCRINE FEATURES - Early puberty MISCELLANEOUS - Variable phenotype MOLECULAR BASIS - Contiguous gene syndrome associated with duplication (4.5 - 9.2Mb) of chromosome Xp11.22-p11.23 ▲ Close

There are at least 34 conditions that cause truncal ataxia. [2] Common [ edit ] Alcohol intoxication [1] Cerebral infarction [1] Cerebral hemorrhage [1] Cerebellar ataxia [1] Multiple sclerosis [1] Friedreich's ataxia [1] Drugs such as Benzodiazepines , Lithium , Phenytoin [1] Uncommon [ edit ] Adrenoleukodystrophy [4] Ataxia oculomotor apraxia type 1 [4] Branchial myoclonus [4] Christianson syndrome [4] Dandy–Walker syndrome [4] Dysequilibrium syndrome [4] Epilepsy [4] Episodic ataxia [4] Post viral cerebellar ataxia [1] Gerstmann–Sträussler–Scheinker syndrome [4] Machado–Joseph disease [4] Microcephaly [4] N-acetylaspartate deficiency [4] Neuhauser–Eichner–Opitz syndrome [4] Paraneoplastic cerebellar degeneration [1] Polymicrogyria [4] Rett syndrome [4] Spinocerebellar ataxia [4] Vertebral dissection [1] References [ edit ] ^ a b c d e f g h i j k l Dennis, Mark; Bowen, William Talbot; Cho, Lucy (2012-01-27). ... External links [ edit ] NIH website v t e Symptoms and signs relating to movement and gait Gait Gait abnormality CNS Scissor gait Cerebellar ataxia Festinating gait Marche à petit pas Propulsive gait Stomping gait Spastic gait Magnetic gait Truncal ataxia Muscular Myopathic gait Trendelenburg gait Pigeon gait Steppage gait Antalgic gait Coordination Ataxia Cerebellar ataxia Dysmetria Dysdiadochokinesia Pronator drift Dyssynergia Sensory ataxia Asterixis Abnormal movement Athetosis Tremor Fasciculation Fibrillation Posturing Abnormal posturing Opisthotonus Spasm Trismus Cramp Tetany Myokymia Joint locking Paralysis Flaccid paralysis Spastic paraplegia Spastic diplegia Spastic paraplegia Syndromes Monoplegia Diplegia / Paraplegia Hemiplegia Triplegia Tetraplegia / Quadruplegia General causes Upper motor neuron lesion Lower motor neuron lesion Weakness Hemiparesis Other Rachitic rosary Hyperreflexia Clasp-knife response