A number sign (#) is used with this entry because this form of congenital disorder of glycosylation type I, designated here as CDG1Q, is caused by homozygous or compound heterozygous mutation in the SRD5A3 gene (611715) on chromosome 4q12. See also Kahrizi syndrome (KHRZ; 612713), an allelic disorder with overlapping features. ... This phenotype overlaps that of the CHIME syndrome (280000), but the authors noted several features present in CHIME that were not present in these patients, including deafness, seizures, oligodontia, and hair abnormalities. ... Al-Gazali et al. (2008) suggested that this family's phenotype represented a distinct autosomal recessive syndrome of ocular coloboma and ichthyosis. ... The mutation spectrum was consistent with a loss of function of SRD5A3. Four families with the CHIME syndrome tested negative for SRD5A3 mutations.
SRD5A3-CDG is a rare, non X-linked congenital disorder of glycosylation due to steroid 5 alpha reductase type 3 deficiency characterized by a highly variable phenotype typically presenting with severe visual impairment, variable ocular anomalies (such as optic nerve hypoplasia/atrophy, iris and optic nerve coloboma, congenital cataract, glaucoma), intellectual disability, cerebellar abnormalities, nystagmus, hypotonia, ataxia, and/or ichthyosiform skin lesions. Other reported manifestations include retinitis pigmentosa, kyphosis, congenital heart defects, hypertrichosis and abnormal coagulation.
Juvenile plantar dermatosis Other names Atopic winter feet, [1] Dermatitis plantaris sicca, [1] Forefoot dermatitis, [1] Moon-boot foot syndrome, [1] and Sweaty sock dermatitis [1] Specialty Dermatology Juvenile plantar dermatosis is a condition usually seen in children between the ages of 3 and 14, and involves the cracking and peeling of weight bearing areas of the soles of the feet. [1] One of the earliest descriptions was made by British dermatologist Darrell Wilkinson . [2] See also [ edit ] Sulzberger–Garbe syndrome List of cutaneous conditions References [ edit ] ^ a b c d e f Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). ... External links [ edit ] Classification D ICD - 10 : L30.1 ( ILDS L30.170) v t e Dermatitis and eczema Atopic dermatitis Besnier's prurigo Seborrheic dermatitis Pityriasis simplex capillitii Cradle cap Contact dermatitis ( allergic , irritant ) plants: Urushiol-induced contact dermatitis African blackwood dermatitis Tulip fingers other: Abietic acid dermatitis Diaper rash Airbag dermatitis Baboon syndrome Contact stomatitis Protein contact dermatitis Eczema Autoimmune estrogen dermatitis Autoimmune progesterone dermatitis Breast eczema Ear eczema Eyelid dermatitis Topical steroid addiction Hand eczema Chronic vesiculobullous hand eczema Hyperkeratotic hand dermatitis Autosensitization dermatitis / Id reaction Candidid Dermatophytid Molluscum dermatitis Circumostomy eczema Dyshidrosis Juvenile plantar dermatosis Nummular eczema Nutritional deficiency eczema Sulzberger–Garbe syndrome Xerotic eczema Pruritus / Itch / Prurigo Lichen simplex chronicus / Prurigo nodularis by location: Pruritus ani Pruritus scroti Pruritus vulvae Scalp pruritus Drug-induced pruritus Hydroxyethyl starch-induced pruritus Senile pruritus Aquagenic pruritus Aquadynia Adult blaschkitis due to liver disease Biliary pruritus Cholestatic pruritus Prion pruritus Prurigo pigmentosa Prurigo simplex Puncta pruritica Uremic pruritus Other substances taken internally: Bromoderma Fixed drug reaction Nummular dermatitis Pityriasis alba Papuloerythroderma of Ofuji v t e Medicine Specialties and subspecialties Surgery Cardiac surgery Cardiothoracic surgery Colorectal surgery Eye surgery General surgery Neurosurgery Oral and maxillofacial surgery Orthopedic surgery Hand surgery Otolaryngology ENT Pediatric surgery Plastic surgery Reproductive surgery Surgical oncology Transplant surgery Trauma surgery Urology Andrology Vascular surgery Internal medicine Allergy / Immunology Angiology Cardiology Endocrinology Gastroenterology Hepatology Geriatrics Hematology Hospital medicine Infectious disease Nephrology Oncology Pulmonology Rheumatology Obstetrics and gynaecology Gynaecology Gynecologic oncology Maternal–fetal medicine Obstetrics Reproductive endocrinology and infertility Urogynecology Diagnostic Radiology Interventional radiology Nuclear medicine Pathology Anatomical Clinical pathology Clinical chemistry Cytopathology Medical microbiology Transfusion medicine Other Addiction medicine Adolescent medicine Anesthesiology Dermatology Disaster medicine Diving medicine Emergency medicine Mass gathering medicine Family medicine General practice Hospital medicine Intensive care medicine Medical genetics Narcology Neurology Clinical neurophysiology Occupational medicine Ophthalmology Oral medicine Pain management Palliative care Pediatrics Neonatology Physical medicine and rehabilitation PM&R Preventive medicine Psychiatry Addiction psychiatry Radiation oncology Reproductive medicine Sexual medicine Sleep medicine Sports medicine Transplantation medicine Tropical medicine Travel medicine Venereology Medical education Medical school Bachelor of Medicine, Bachelor of Surgery Bachelor of Medical Sciences Master of Medicine Master of Surgery Doctor of Medicine Doctor of Osteopathic Medicine MD–PhD Related topics Alternative medicine Allied health Dentistry Podiatry Pharmacy Physiotherapy Molecular oncology Nanomedicine Personalized medicine Public health Rural health Therapy Traditional medicine Veterinary medicine Physician Chief physician History of medicine Book Category Commons Wikiproject Portal Outline This dermatology article is a stub .
Most full-term neonates have respiratory distress with tachypnea (infant acute respiratory distress syndrome) and usually require supplemental oxygen for days, some for weeks. ... Differential diagnosis The main differential diagnoses are cystic fibrosis, immunodeficiency syndromes and gastroesophageal reflux. Additionally, PCD has been noted in patients with Cri du chat syndrome due to the common locus on chromosome 5p. Segmental deletion of chromosome 5p in Cri du chat syndrome usually includes PCD-associated gene DNAH5 and the pathogenic variant in the remaining allele of DNAH5 renders it to PCD.
They pointed out that normal ciliary ultrastructure has been reported in patients with Kartagener syndrome (Herzon and Murphy, 1980; Greenstone et al., 1983) and they suggested that random ciliary orientation could be the defect in some of these patients.
Diagnosis Suggestive Findings 17q12 recurrent deletion syndrome should be suspected in individuals with any of the following clinical and laboratory findings. ... OFD1 Oral-facial-digital syndrome type I XL Polycystic kidneys in women; progressive kidney dysfunction in adulthood Cleft palate, dental anomalies, facial dysmorphology, digital anomalies, ID PAX2 Renal coloboma syndrome (See PAX2 -Related Disorder.) ... (See OMIM Phenotypic Series: Autosomal dominant ID; Autosomal recessive ID; Nonsyndromic X-linked ID; Syndromic X-linked ID; and Susceptibility to autism.) Management No clinical practice guidelines for 17q12 recurrent deletion syndrome have been published. Evaluations Following Initial Diagnosis To establish the extent of disease and needs in an individual diagnosed with the 17q12 recurrent deletion syndrome, the evaluations summarized in Table 5 (if not performed as part of the evaluation that led to the diagnosis) are recommended. ... Treatment of Manifestations in Individuals with 17q12 Recurrent Deletion Syndrome View in own window Manifestation/ Concern Treatment Considerations/Other Kidney disease Treatment should follow standard practice.
Set of medical signs and symptoms experienced by U.S. and Canadian embassy staff, reported in Cuba and China. Havana syndrome The Hotel Nacional in Havana is one of the locations where the syndrome occurred. [1] Symptoms Hearing strange grating noises, headache, hearing loss, memory loss, and nausea Causes Likely caused by directed microwaves [2] Havana syndrome is a set of medical signs and symptoms experienced by United States and Canadian embassy staff in Cuba . ... Retrieved June 22, 2018 . ^ a b " ' Havana syndrome' likely caused by directed microwaves - US report" . ... "Ottawa doctor treating Canadian diplomats with mysterious 'Havana syndrome ' " . Ottawa Citizen . It is being called Havana syndrome and officials in Canada and the United States, where more than 20 diplomats have been affected, are trying to identify the cause of the injuries. ^ a b "Trump says Cuba 'responsible' for alleged sonic attacks, but offers no evidence" . ... Retrieved January 10, 2018 . ^ "Blood and bureaucracy: Inside Canada's panicked response to 'Havana syndrome ' " . Retrieved February 7, 2019 . ^ "‘Havana Syndrome’ forces Canada to halve its diplomatic presence in Cuba" . ... "U.S. diplomats in Cuba have unusual brain syndrome, but there's no proof they were attacked, study says" .
Late talker Other names Einstein syndrome Specialty Developmental Psychology Symptoms Language delay Risk factors Poor language ability Treatment Language interventions: General Language Stimulation, Focused language stimulation, Milieu Teaching Frequency Approx. 13% of two-year-olds A late talker is a toddler experiencing late language emergence (LLE). [1] [2] LLE can also be an early or secondary sign of an autism spectrum disorder , or other developmental disorders, such as attention deficit hyperactivity disorder , intellectual disability , learning disability , social communication disorder , or specific language impairment . [3] [4] [5] [6] Late talkers are children who are intellectually abled, but do not show signs of normal language development for their age. [6] [7] Lack of language development, comprehension skills and challenges with literacy skills are potential risks as late talkers age. [2] Outlook for late talkers with or without intervention is generally favorable. [8] Toddlers have a high probability of catching up to typical toddlers if early language interventions are put in place. [9] [1] Language interventions include general language stimulation, focused language stimulation and milieu teaching. [10] [11] [12] [13] [14] [15] Speech pathologists are specialists who work with late talkers and provide individualised support for each child's unique needs. [10] Contents 1 Language development 1.1 Expected language emergence 1.2 Late talker's language emergence 2 Signs and symptoms 3 Diagnosis 3.1 Types of assessment 3.1.1 Ethnographic interviewing 3.1.2 Language sampling 3.1.3 Dynamic assessment 3.1.4 Standardised assessments 3.1.4.1 Norm-referenced test 3.1.4.2 Criterion-referenced test 3.1.5 Observation techniques 3.1.5.1 Analog tasks 3.1.5.2 Naturalistic observation 3.1.5.3 Systematic observation and contextual analysis 3.2 Culture and assessment 4 Treatment 4.1 Language intervention 4.1.1 General language stimulation 4.1.2 Focused language stimulation 4.1.3 Milieu teaching 4.2 Culture and treatment 5 Outcomes 6 See also 7 References Language development [ edit ] Expected language emergence [ edit ] See also: Language development Toddlers aged 1–2 years begin to use and comprehend different types of words. ... In many cultures this is seen as unacceptable. [31] Treatments for these kinds of situations are modified and options such as, schools are considered as a place to undertake treatment. [15] Outcomes [ edit ] Once late talkers enter kindergarten , most begin to catch-up and present language ability within the typical talker range. [21] [1] Late talkers tend to demonstrate poorer language ability and be at the lower end of the normal range than typical talkers. [21] Late talkers exhibit considerably lower scorers on language measures than typical talkers once they reach adolescence . [20] Around 50% to 70% of children who experience LLE reach normal language level by the time they enter school. [32] Their chances of successfully catching up decrease when language delay is still present by the time they are three years old. [29] This is only the case for 5-8% of preschool children. [20] See also [ edit ] Savant syndrome Nonverbal autism Language delay § Complications References [ edit ] ^ a b c d e f Prelock PA, Hutchins TL (2018). ... Topics related to Speech-Language Pathology v t e Diseases of the nervous system , primarily CNS Inflammation Brain Encephalitis Viral encephalitis Herpesviral encephalitis Limbic encephalitis Encephalitis lethargica Cavernous sinus thrombosis Brain abscess Amoebic Brain and spinal cord Encephalomyelitis Acute disseminated Meningitis Meningoencephalitis Brain / encephalopathy Degenerative Extrapyramidal and movement disorders Basal ganglia disease Parkinsonism PD Postencephalitic NMS PKAN Tauopathy PSP Striatonigral degeneration Hemiballismus HD OA Dyskinesia Dystonia Status dystonicus Spasmodic torticollis Meige's Blepharospasm Athetosis Chorea Choreoathetosis Myoclonus Myoclonic epilepsy Akathisia Tremor Essential tremor Intention tremor Restless legs Stiff-person Dementia Tauopathy Alzheimer's Early-onset Primary progressive aphasia Frontotemporal dementia / Frontotemporal lobar degeneration Pick's Dementia with Lewy bodies Posterior cortical atrophy Vascular dementia Mitochondrial disease Leigh syndrome Demyelinating Autoimmune Inflammatory Multiple sclerosis For more detailed coverage, see Template:Demyelinating diseases of CNS Episodic/ paroxysmal Seizures and epilepsy Focal Generalised Status epilepticus For more detailed coverage, see Template:Epilepsy Headache Migraine Cluster Tension For more detailed coverage, see Template:Headache Cerebrovascular TIA Stroke For more detailed coverage, see Template:Cerebrovascular diseases Other Sleep disorders For more detailed coverage, see Template:Sleep CSF Intracranial hypertension Hydrocephalus Normal pressure hydrocephalus Choroid plexus papilloma Idiopathic intracranial hypertension Cerebral edema Intracranial hypotension Other Brain herniation Reye syndrome Hepatic encephalopathy Toxic encephalopathy Hashimoto's encephalopathy Both/either Degenerative SA Friedreich's ataxia Ataxia–telangiectasia MND UMN only: Primary lateral sclerosis Pseudobulbar palsy Hereditary spastic paraplegia LMN only: Distal hereditary motor neuronopathies Spinal muscular atrophies SMA SMAX1 SMAX2 DSMA1 Congenital DSMA Spinal muscular atrophy with lower extremity predominance (SMALED) SMALED1 SMALED2A SMALED2B SMA-PCH SMA-PME Progressive muscular atrophy Progressive bulbar palsy Fazio–Londe Infantile progressive bulbar palsy both: Amyotrophic lateral sclerosis v t e Dyslexia and related specific developmental disorders Conditions Speech, language , and communication Expressive language disorder Infantile speech Landau–Kleffner syndrome Language disorder Lisp Mixed receptive-expressive language disorder Specific language impairment Speech and language impairment Speech disorder Speech error Speech sound disorder Stuttering Tip of the tongue Learning disability Dyslexia Dyscalculia Dysgraphia Disorder of written expression Motor Developmental coordination disorder Developmental verbal dyspraxia Sensory Auditory processing disorder Sensory processing disorder Related topics Dyslexia research Irlen filters Learning Ally Learning problems in childhood cancer Literacy Management of dyslexia Multisensory integration Neuropsychology Reading acquisition Spelling Writing system Lists Dyslexia in fiction Languages by Writing System People with dyslexia 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 v t e Allied health professions Anesthesia technician Aquatic therapist Athletic trainer Audiologist Dental hygienist Dietitian Cardiac physiologist Emergency medical services Hemodialysis technicians Massage therapist Medical assistants Medical coder Medical physicist Medical technologist Medical transcription Music and arts therapist Nutrition ( clinical ) Occupational therapist Optometrist Phlebotomist Orthotist / Prosthetist Physical therapist Clinical psychologist Public health Radiation therapist Radiographer Respiratory therapy Social worker Speech therapist Orthoptists v t e Pervasive developmental disorders and autism spectrum Main Causes Comorbid conditions Epidemiology Heritability Societal and cultural aspects Medical model Therapies Diagnoses Autism spectrum ( High-functioning autism Classic autism Asperger syndrome Pervasive developmental disorder not otherwise specified Childhood disintegrative disorder Rett syndrome ) Related conditions Alexithymia Attention deficit hyperactivity disorder Anxiety disorder ( obsessive–compulsive disorder ) Late talker Epilepsy Fragile X syndrome Hyperlexia Savant syndrome Sensory processing disorder Intellectual disability Developmental coordination disorder Multiple complex developmental disorder Controversies Autism rights movement Autistic enterocolitis Facilitated communication MMR vaccine Rapid prompting method Thiomersal ( Chelation ) Diagnostic scales Gilliam Asperger's disorder scale Autism Diagnostic Observation Schedule Autism Diagnostic Interview Autism-spectrum quotient Childhood Autism Rating Scale Lists Autism-related topics Fictional characters Schools This developmental psychology –related article is a stub .
The presence of cataracts in childhood or early life can occasionally be due to a particular syndrome. Examples of chromosome abnormalities associated with cataracts include 1q21.1 deletion syndrome , cri-du-chat syndrome , Down syndrome , Patau's syndrome , trisomy 18 ( Edward's syndrome ), and Turner's syndrome , and in the case of neurofibromatosis type 2 , juvenile cataract on one or both sides may be noted. Examples of single-gene disorder include Alport's syndrome , Conradi's syndrome , cerebrotendineous xanthomatosis , myotonic dystrophy , and oculocerebrorenal syndrome or Lowe syndrome . ... Some surveys have shown a link, but others which followed people over longer terms have not. [24] Inadequate vitamin C [ edit ] Low vitamin C intake and serum levels have been associated with greater cataract rates. [25] However, use of supplements of vitamin C has not demonstrated benefit. [26] Medications [ edit ] Some medications, such as systemic, topical, or inhaled corticosteroids , may increase the risk of cataract development. [27] [28] Corticosteroids most commonly cause posterior subcapsular cataracts. [28] People with schizophrenia often have risk factors for lens opacities (such as diabetes, hypertension, and poor nutrition) but antipsychotic medications are unlikely to contribute to cataract formation. [29] Miotics [30] and triparanol may increase the risk. [31] Post-operative [ edit ] Nearly every person who undergoes a vitrectomy —without ever having had cataract surgery—will experience progression of nuclear sclerosis after the operation. [32] This may be because the native vitreous humor is different from the solutions used to replace the vitreous ( vitreous substitutes ), such as BSS Plus . [33] This may also be because the native vitreous humour contains ascorbic acid which helps neutralize oxidative damage to the lens and because conventional vitreous substitutes do not contain ascorbic acid. [34] [35] Accordingly, for phakic patients requiring a vitrectomy it is becoming increasingly common for ophthalmologists to offer the vitrectomy combined with prophylactic cataract surgery to prevent cataract formation. [36] Other diseases [ edit ] Metabolic and nutritional diseases Aminoaciduria or Lowe's syndrome Cerebrotendineous xanthomatosis Diabetes mellitus Fabry's disease Galactosemia / galactosemic cataract Homocystinuria Hyperparathyroidism Hypoparathyroidism Hypervitaminosis D Hypothyroidism Hypocalcaemia Mucopolysaccharidoses Wilson's disease Congenital Congenital syphilis Cytomegalic inclusion disease Rubella Cockayne syndrome Genetic syndromes Down syndrome Patau syndrome Edwards syndrome Infections: Cysticercosis Leprosy Onchocerciasis Toxoplasmosis Varicella Secondary to other eye diseases: Retinopathy of prematurity Aniridia Uveitis Retinal detachment Retinitis pigmentosa Sunflower cataract of a forty-year-old male with Wilson's disease and decompensated chronic liver disease Diagnosis [ edit ] Classification [ edit ] Cross-sectional view, showing the position of the human lens Play media Ultrasound scan of a unilateral cataract seen in a fetus at twenty weeks of pregnancy Cataracts may be partial or complete, stationary or progressive, or hard or soft. ... Serious side effects are rare. [61] Posterior capsular opacification is common and occurs following up to one in four operations, but these rates are decreasing following the introduction of modern intraocular lenses together with a better understanding of the causes. Vitreous touch syndrome is a possible complication of intracapsular cataract extraction. [62] Epidemiology [ edit ] Disability-adjusted life years for cataracts per 100,000 inhabitants in 2004: [63] no data <90 90–180 180–270 270–360 360–450 450–540 540–630 630–720 720–810 810–900 900–990 >990 Age-related cataracts are responsible for 51% of world blindness, about 20 million people. [64] Globally, cataracts cause moderate to severe disability in 53.8 million (2004), 52.2 million of whom are in low and middle income countries. [65] In many countries, surgical services are inadequate, and cataracts remain the leading cause of blindness. [64] Even where surgical services are available, low vision associated with cataracts may still be prevalent as a result of long waits for, and barriers to, surgery, such as cost, lack of information and transportation problems. ... External links [ edit ] Classification D ICD - 10 : H25 - H26 , H28 , Q12.0 ICD - 9-CM : 366 MeSH : D002386 DiseasesDB : 2179 SNOMED CT : 128306009 External resources MedlinePlus : 001001 Cataract at Curlie Pictures of different types of cataracts 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 BNE : XX526157 BNF : cb11953097t (data) GND : 4158095-3 LCCN : sh85020947 NDL : 00562858
Overview A cataract is a clouding of the normally clear lens of the eye. For people who have cataracts, seeing through cloudy lenses is a bit like looking through a frosty or fogged-up window. Clouded vision caused by cataracts can make it more difficult to read, drive a car (especially at night) or see the expression on a friend's face. Most cataracts develop slowly and don't disturb your eyesight early on. But with time, cataracts will eventually interfere with your vision. At first, stronger lighting and eyeglasses can help you deal with cataracts.
Diagnosis Suggestive Findings The diagnosis of McLeod neuroacanthocytosis syndrome (MLS) should be suspected/considered in an individual with the following clinical and laboratory findings and family history. ... Option 3 (For symptomatic individuals in whom the diagnosis of McLeod neuroacanthocytosis syndrome has not been considered) When the diagnosis of McLeod neuroacanthocytosis syndrome has not been considered in a symptomatic individual, the options are a multigene panel or comprehensive genomic testing. ... Neurologic disorders associated with RBC acanthocytosis have been summarized as neuroacanthocytosis syndromes [Danek et al 2004, Danek et al 2005, Jung et al 2011]. 2. ... Rarely, cranial nerve involvement [Kane & Havel 1995, Tarugi & Averna 2011]. 3. Results in a chorea syndrome resembling Huntington disease 4. HARP syndrome ( h ypoprebetalipoproteinemia, a canthocytosis, r etinitis pigmentosa, and p allidal degeneration) is allelic with PKAN [Ching et al 2002, Houlden et al 2003].
Neurofibromatosis type 6 (NF6), also referred as café-au-lait spots syndrome, is a cutaneous disorder characterized by the presence of several café-au-lait (CAL) macules without any other manifestations of neurofibromatosis or any other systemic disorder. ... Differential diagnosis Differential diagnoses include neurofibromatosis type 1, McCune-Albright syndrome, and tuberous sclerosis (see these terms).
Clinical Features Multiple cafe-au-lait spots, which are the diagnostic hallmark of neurofibromatosis I (NF1; 162200), have been observed in families in which there have been no other changes of NF1 (Riccardi, 1980). The absence of neurofibromas and Lisch nodules of the iris suggests that these families are expressing a trait genetically distinct from NF1. Charrow et al. (1993) reported a family with multiple cafe-au-lait spots with no other features of NF1 in 4 generations, with male-to-male transmission in the first 2 generations. Mapping Charrow et al. (1993) excluded linkage to NF1 on chromosome 17 in a family with multiple cafe-au-lait spots. Brunner et al. (1993) likewise excluded the NF1 locus as the site of the mutation in this disorder by demonstrating that an affected woman had transmitted a different haplotype for markers flanking the NF1 gene (613113) to each of her 2 affected daughters.
Some people with DEAF1-related disorders may also have some features that resemble another disease known as Smith-Magenis syndrome , such as intellectual disability, dysmorphic features, and sleep disturbances.. ... There are two types of DEAF-1 disorders that have been described: an autosomal recessive DEAF-1 disorder (known as intellectual disability-epilepsy-extrapyramidal syndrome , or dyskinesia, seizures, and intellectual developmental disorder ) and an autosomal dominant DEAF-1 disorder known as autosomal dominant intellectual disability 24 .
A mitochondrial origin was initially suspected, but mitochondrial DNA analysis did not detect any of the most frequent mutations usually reported in mitochondrial syndromes. Biochemical analysis, including lactate and pyruvate in serum and cerebrospinal fluid, was normal. ... Megarbane et al. (1999) concluded that their patients may have a distinct autosomal recessive syndrome.
Leung and McLeod (2004) noted that hypoplastic nipples and hypoplastic umbilicus are present in 50% of patients with Cornelia de Lange syndrome (122470) (Jones, 1997) and that a protruding or prominent umbilicus or a flat umbilicus could be a feature of Aarskog syndrome (305400) (Tsukahara and Fernandez, 1994).
Involvement of the mesencephalon and rhombencephalon and the absence of visceral and axial limb abnormalities distinguish this presumably autosomal recessive syndrome from the XK aprosencephaly syndrome (207770).
A rare genetic non-syndromic central nervous system malformation characterized by absence of the telencephalon and absent or abnormal diencephalic structures, combined with severe abnormalities of the mesencephalon and cerebellum.