Presentation
Mitochondrial disorders such as LHON may present with dystonia. [neuroweb.us]
Each entry follows a 5 section structure that will cover (1) essential features of the disorder (2) physiological basis of the disorder (3) neuropsychological and other clinical presentation (4) assessment and diagnostic practices (5) evidence-based treatments [springerpub.com]
Affected individuals often have a short stature and may present with a mild intellectual disability or learning difficulties. Hypospadias is frequently reported in males with SRS. Etiology Etiology is unknown. [rarediseases.info.nih.gov]
Presenting features[6] SRS is primarily a clinical diagnosis but molecular testing enables confirmation of the clinical diagnosis and defines the subtype[7]. [patient.info]
Clinical presentation Patients may present with a variety of symptoms ranging from asymptomatic bradycardia to multiorgan failure. The most common presentation Then become hypovolaemic for any reason such as a gastrointestinal illness. [litfl.com]
Entire Body System
- Epilepsy
Epidemiology of headache Epidural hematoma Epilepsy Epilepsy surgery in children Epilepsy with generalized tonic clonic seizures alone Epilepsy with myoclonic-atonic seizures Epileptic encephalopathy with continuous spike-and-wave during sleep Executive [medlink-blog.com]
[…] of the child 600131 8 Epilepsy with central-temporal points to see family rolandic Epilepsy imperfect Epilepsy-insanity-amélogenèse 226750 Unknown Family benign infantile epilepsy 601764 9 Pyridoxino-dependent epilepsy 266100 5 Family rolandic epilepsy [wikipedia.qwika.com]
It contains the first written record of the brain. 460 - 379BC Greek physician and philosopher Hippocrates discusses epilepsy as a disturbance of the brain. [medibank.com.au]
AND CHARACTERISTIC FACIES;; CEREBROOCULOFACIAL LYMPHATIC SYNDROME;; COFL SYNDROME; ;MENTAL RETARDATION WITH EPILEPSY AND CHARACTERISTIC FACIES (OMIM:606155) 2.5781 %181270 SCALP-EAR-NIPPLE SYNDROME;;FINLAY-MARKS SYNDROME;; SEN SYNDROME (OMIM:181270) [jcdr.net]
Myoclonica Dyssynergia Cerebellaris Progressiva Dystonias Early Infantile Epileptic Encephalopathy Empty Sella Syndrome Encephalitis Encephalitis Lethargica Encephaloceles Encephalopathy Encephalopathy (familial infantile) Encephalotrigeminal Angiomatosis Epilepsy [gncdubai.com]
- Underweight
Babies born small-for-gestational-age should remain lean (but not underweight) due to high risk of medical problems related to insulin resistance and metabolic syndrome. It is important to monitor weight-for-height. [rarediseases.org]
It is important to note that when we refer to “SGA children” below, we are specifically referring to the small subset of children born SGA who remain small and underweight (fail to catch-up in growth). [magicfoundation.org]
Gastrointestinal
- Constipation
[…] finger Failure to thrive, including delayed bone age Low birth weight Short height, short arms, stubby fingers and toes All or part of one side of the body is smaller than the other side (asymmetry) Stomach and intestine problems such as acid reflux and constipation [mountsinai.org]
[…] problems during episodes of jaundice, including: abdominal (tummy) pain feeling very tired (fatigue) loss of appetite feeling sick dizziness irritable bowel syndrome (IBS) – a common digestive disorder that causes stomach cramps, bloating, diarrhoea and constipation [nidirect.gov.uk]
[…] the maxilla Thick lower lip vermilion Genu recurvatum Short philtrum Lateral clavicle hook Fever Renal insufficiency Respiratory distress Pneumonia Recurrent respiratory infections Erythema Mild microcephaly Abnormal heart morphology Hernia Short chin Constipation [mendelian.co]
[…] as well as changing types of food that digest faster to allow for more natural hunger); identification and resolution of reflux (often asymptomatic); identification and accommodations for delayed gastric emptying; and identification and resolution of constipation [magicfoundation.org]
- Nausea
[…] cranial neuropathies Multiple system atrophy Myoadenylate deaminase deficiency Myoclonic absences Myoclonic seizures Myoclonus Myoclonus epilepsy with ragged-red fibers Myopathies associated with thyroid disease Myotonic muscular dystrophy (neonatal) Nausea [medlink-blog.com]
The clinical features are those of meningoencephalomyelitis and include nonspecific prodromal stage, followed by headaches, nausea, vomiting, behavioral changes, altered state of consciousness and often seizures. [neuroweb.us]
These infrequent/rare side effects include the following: mild transient hypoglycemia; injection site reactions such as rashes; transient headaches, nausea and/or vomiting, usually within the first 8 weeks of starting GHT; or mild and transient edema [magicfoundation.org]
- Abdominal Pain
All patients presented with persistent fever for 3 to 19 days and variable combinations of sore throat (n = 6 [10%]), headache (n = 15 [26%]), and abdominal pain (n = 31 [53%]). [jamanetwork.com]
- Loss of Appetite
Some people also report other problems during episodes of jaundice, including: abdominal (tummy) pain feeling very tired (fatigue) loss of appetite feeling sick dizziness irritable bowel syndrome (IBS) – a common digestive disorder that causes stomach [nidirect.gov.uk]
Cardiovascular
- Tachycardia
Syndrome Postural Tachycardia Syndrome Primary Dentatum Atrophy Primary Lateral Sclerosis Primary Progressive Aphasia Prion Diseases Progressive Hemifacial Atrophy Progressive Locomotor Ataxia Progressive Multifocal Leukoencephalopathy Progressive Sclerosing [gncdubai.com]
[…] achieve it with Mendelian Learn more Other signs and symptoms that you may find interesting Fever and Pulmonary arterial hypertension, related diseases and genetic alterations Ptosis and Midface retrusion, related diseases and genetic alterations Pain and Tachycardia [mendelian.co]
Syndrome, Postural Tachycardia Syndrome, Primary Dentatum Atrophy, Primary Lateral Sclerosis, Primary Progressive Aphasia, Prion Diseases, Progressive Hemifacial Atrophy, Progressive Locomotor Ataxia, Progressive Multifocal Leukoencephalopathy, Progressive [nrf2.com]
[…] deficiency Beta-mannosidosis Beta-sarcoglycanopathy Beta-thalassemia major anemia Beta-thalassemia ( gene promoter involvement ) Bethlem myopathy Bh Bhaskar Jagannathan syndrome Bi Bib-Bil Bickel Fanconi glycogenosis Bicuspid aortic valve Bidirectional tachycardia [wikidoc.org]
Beta-galactosidase-1 deficiency Beta-mannosidosis Beta-sarcoglycanopathy Beta-thalassemia major anemia Beta-thalassemia Bethlem myopathy Bhaskar Jagannathan syndrome Bi-Bl Bibliophobia Bickel Fanconi glycogenosis Bicuspid aortic valve Bidirectional tachycardia [bioreference.net]
Jaw & Teeth
- Strawberry Tongue
The American Heart Association criteria for KD were used: persistent fever and 4 of 5 mucocutaneous features (erythema and cracking of lips, strawberry tongue, and/or erythema of oral and pharyngeal mucosa; bilateral bulbar conjunctival injection without [jamanetwork.com]
Liver, Gall & Pancreas
- Jaundice
When to see your GP You should see your GP if you experience an episode of jaundice for the first time. The jaundice of Gilbert's syndrome is usually mild. [nidirect.gov.uk]
Skin
- Alopecia
Vogt-Koyanagi-Harada syndrome (uveitis-vitiligo-alopecia-poliosis syndrome) 13. Waardenburg syndrome (embryonic fixation syndrome) 14. Werner syndrome (progeria of adults) Fraunfelder FT, Fraunfelder FW. Drug-induced ocular side effects. [dentisty.org]
Alopecia universalis Alport syndrome Amelogenesis imperfecta Amyloidosis Amyotrophic lateral sclerosis Amyotrophic lateral sclerosis type 4 Aneurysm - osteoarthritis syndrome Aniridia Aniridia - cerebellar ataxia - intellectual disability Ankylosing [sanfordresearch.org]
Papillomavirus Infection HSP Hereditary spastic paraplegia IBD Inflammatory bowel disease IBM Inclusion body myositis IBS Ichthyosis bullosa of Siemens IBS Irritable bowel syndrome IED Intermittent Explosive Disorder IFAP syndrome Ichthyosis follicularis, alopecia [openwiki.kr]
Fatigue Syndrome Chronic Fatigue Syndrome/Myalgic Encephalomyelitis Chronic Inflammatory Demyelinating Polyneuropathy Chronic Intestinal Pseudo-obstruction Chronic Lymphocytic Leukemia Chronic Myelogenous Leukemia Churg Strauss Syndrome Cicatricial Alopecia [arrayit.com]
Goldberg-Shprintzen syndrome 今泉 清 761 323 Gollop-Wolfgang syndrome 今泉 清 下巻 324 gonadal dysgenesis, XX type & XY type 緒方 勤 763 325 Gorlin-Chaudhry-Moss syndrome 家島 厚 765 326 gracile bone dysplasia 家島 厚 767 327 Grebe syndrome 家島 厚 769 328 growth retardation-alopecia-pseudoanodontia-optic [nippon-rinsho.co.jp]
- Skin Rash
Photosensitive skin rash or recurrent bronchopulmonary infections should prompt investigation for chromosome breakage disorders. [nature.com]
Musculoskeletal
- Swelling of Hand
[…] of hands, feet or another area) early during treatment. [magicfoundation.org]
- Thin Fingers
Symptoms of Bhaskar Jagannathan syndrome include long and thin fingers, poor balance, high levels of amino acids (nutrients your body needs) in urine, cataracts (clouding of the eyes) during infancy, and ataxia. [diseaseinfosearch.org]
Psychiatrical
- Suggestibility
Autosomal dominant inheritance is suggested. [ncbi.nlm.nih.gov]
Further reading suggestions appear after each diagnostic description. [books.google.de]
We suggest discontinuing the systematic use of the term "Ohdo syndrome" when referring to patients with BMRS. [researchgate.net]
Advise people receiving COVID-19 Vaccine Janssen to seek immediate medical attention if they develop symptoms suggestive of GBS. [ema.europa.eu]
Estimates suggest as many as 1 in every 300 people may be carriers of an alteration in a gene associated with Lynch syndrome. [cancer.net]
Face, Head & Neck
- Thin Lips
The syndrome consists of blepharophimosis, malar hypoplasia, small thin lips, and long tapering fingers. The facial phenotype changes with age. Autosomal dominant inheritance is suggested. [ncbi.nlm.nih.gov]
Neurologic
- Stroke
Website: www.stroke.org.uk Stroke Stroke Association Stafford Stroke Stroke Association Support for Stroke survivors, re-enabling, clubs and grants Location: staffordshire Address: c/o Cannock Chase Hospital, Brunswick Road, Cannock, WS11 5XY Telephone [staffsneurologicalalliance.org.uk]
[…] associated with drug abuse Stroke associated with sickle cell disease Stroke in young adults Stroke: supportive care Subcortical laminar heterotopia Subcortical vascular cognitive impairment Succinic semialdehyde dehydrogenase deficiency Sudden unexplained [medlink-blog.com]
Antiphospholipid Syndrome Aphasia Apraxia Arachnoid Cysts Arachnoiditis Arnold-Chiari Malformation Arteriovenous Malformation Asperger Syndrome Ataxia Ataxia Telangiectasia Ataxias and Cerebellar or Spinocerebellar Degeneration Atrial Fibrillation and Stroke [gncdubai.com]
Macrencephaly, Megalencephaly, Melkersson-Rosenthal Syndrome, Meningitis, Meningitis and Encephalitis, Menkes Disease, Meralgia Paresthetica, Metachromatic Leukodystrophy, Microcephaly, Migraine, Miller Fisher Syndrome, Mild Cognitive Impairment, Mini-Strokes [nrf2.com]
Antiphospholipid Syndrome, Aphasia, Apraxia, Arachnoid Cysts, Arachnoiditis, Arnold-Chiari Malformation, Arteriovenous Malformation, Asperger Syndrome, Ataxia,Ataxia Telangiectasia,Ataxias and Cerebellar or Spinocerebellar Degeneration, Atrial Fibrillation and Stroke [medibank.com.au]
Urogenital
- Renal Injury
The most common precipitants are hypovolaemia and medications promoting hyperkalaemia or renal injury. BRASH syndrome is fundamentally a synergistic process created by a combination of hyperkalemia and medications blocking the AV node. [litfl.com]
Workup
This review highlights the diagnostic criteria for PHACE syndrome, the imaging workup for extracutaneous involvement, the treatment of infantile hemangioma, and the importance of a multidisciplinary approach in the management of these patients. [pubmed.ncbi.nlm.nih.gov]
Treatment
Emu oil is a natural treatment option for eczema Emu oil is also an excellent, all-natural and chemical free alternative treatment for eczema. [emujoy.com]
The medical term for becoming tolerant or resistant to treatment is “tachyphylaxis.” [itsan.org]
Several different formulations of iron are designed for intravenous treatment and are used for the treatment of anemia. [hopkinsmedicine.org]
Treatment Treatment is supportive and symptomatic. Individuals with the disorder often require tube feeding. Because COFS is genetic, genetic counseling is available. × Treatment Treatment is supportive and symptomatic. [ninds.nih.gov]
Treatments to help with growth and development include: a nutrition schedule with specified snack and meal times growth hormone injections luteinizing hormone-releasing treatments (a hormone released in females to trigger monthly ovulation) Treatments [healthline.com]
Prognosis
Prognosis COFS is a fatal disease. Most children do not live beyond five years. x Prognosis COFS is a fatal disease. Most children do not live beyond five years. Prognosis COFS is a fatal disease. Most children do not live beyond five years. [ninds.nih.gov]
Prognosis - Blepharo facio skeletal syndrome Not supplied. Treatment - Blepharo facio skeletal syndrome Not supplied. Resources - Blepharo facio skeletal syndrome [checkorphan.org]
Prognosis The prognosis is generally good but morbidity is very variable and will depend on the severity of associated features. [patient.info]
They include: A doctor specializing in genetics to help diagnose RSS A gastroenterologist or dietician to help develop the proper diet to enhance growth An endocrinologist to prescribe growth hormone A genetic counselor and psychologist Outlook (Prognosis [mountsinai.org]
Etiology
Etiology Etiology is unknown. Genetic counseling Transmission is autosomal dominant with variable expressivity. Last updated: 1/1/2014 [rarediseases.info.nih.gov]
They are organised into groups, and further divided into clinical, etiological or histopathological sub-types. [orpha.net]
Etiology Bell palsy A common entity of facial nerve paralysis is Bell palsy, which is unilateral and is considered to be of idiopathic etiology. [emedicine.medscape.com]
A definitive clinical and etiologic classification of BMRS is lacking, but closer phenotypic analysis should lead to a more useful appraisal of the BMRS phenotype. [researchgate.net]
Epidemiology
Epidemiology SRS has been described in 18 individuals to date. Its prevalence is unknown. [rarediseases.info.nih.gov]
Consensus document on the epidemiology of severe acute respiratory syndrome (SARS). World Health Organization. https://apps.who.int/iris/handle/10665/70863 Description WHO/CDS/CSR/GAR/2003.11 46 p. [apps.who.int]
The discussion covers the phenotype spectrum, epidemiology, mode of inheritance, pathogenesis, and clinical profile of each condition, all of which is accompanied by a wealth of illustrations. [books.google.com]
Learn about the impacts that child poverty has on the developing brain with data from the fields of psychology, neuroscience, and public health epidemiology. [brainfacts.org]
"Blood Pressure" [SH] (epidemiology AND humans) [SH] SI Secondary Source ID The SI field identifies secondary source databanks and accession numbers, e.g., GenBank, GEO, PubChem, ClinicalTrials.gov, ISRCTN. [biomedsearch.com]
Pathophysiology
Pathophysiology Hyperkalaemia and AV-nodal blocking medications (such as beta blockers, calcium channel blockers, digoxin, and amiodarone) can cause bradycardia. [litfl.com]
There are several possible pathophysiologic mechanisms for Terson syndrome. Subarachnoid blood may be directly transmitted forward through the optic nerve sheath [4][2]. [eyewiki.aao.org]
Pathophysiology Facial nerve injury can be complete or partial. Generally, partial disruption of axonoplasmal flow reveals a greater chance of complete functional recovery. [emedicine.medscape.com]
Only the imprinted genes that are implicated in the pathophysiology of Silver–Russell syndrome are represented. Blue boxes indicate paternally expressed genes (the growth promoter IGF2 and the long noncoding RNA (lncRNA) KCNQ1OT1). [nature.com]
Prevention
Her newborn screening results did not make it back in time to prevent the crisis, and no one at our local hospital was familiar with the disease. They did not know how to treat her. [ggc.org]
Prevention - Blepharo facio skeletal syndrome Not supplied. Diagnosis - Blepharo facio skeletal syndrome Not supplied. Prognosis - Blepharo facio skeletal syndrome Not supplied. Treatment - Blepharo facio skeletal syndrome Not supplied. [checkorphan.org]
Currently showing 271-280 Get Update Bernard-Soulier syndrome type C Disease Type: Genetic, autosomal recessive Congenital onset Bernard-Soulier syndrome, also known as hemorrhagiparous thrombocytic dystrophy, is a rare disorder that prevents a person [diseaseinfosearch.org]
Preventing Hypoglycemia During Nighttime and in Routine Daily Life: We highly encourage you to read the hypoglycemia chapter in the RSS/SGA Guidebook for comprehensive prevention and treatment information. [magicfoundation.org]