A 22 year old medical student presented with sudden onset of loss of consciousness with seizures. H/o recent long distance travel was present. [japi.org]

Although comprehensive genotyping of the RET proto-oncogene was not available at the time of this family s presentation,&. [neviso58.skyrock.com]

Heterochromia may be present secondary to diffuse darkly pigmented micropapillae on the iris surface in place of iris crypts. Epithelial congenital melanocytosis is a stationary lesion present at birth or early childhood. [entokey.com]

Tuberous sclerosis AD disorder with incomplete penetrance and variable presentation. Assoc with astrocytomas. [cram.com]

• Tall Stature

  stature Causes List for Disproportionate tall stature List of possible causes of Disproportionate tall stature or similar symptoms may include: 2 Arthrogryposis, Distal, Type 9 (Disproportionate tall stature) Arthrogryposis (Disproportionate tall stature [familydiagnosis.com]

  Disproportionate tall stature MedGen UID: 323048 • Concept ID: C1836996 • Finding A tall and slim body build with increased arm span to height ratio ( 1.05) and a reduced upper-to-lower segment ratio ( Hyperextensibility of the finger joints MedGen UID [ncbi.nlm.nih.gov]

  HP:0002650 2 kyphosis 31 HP:0002808 3 mandibular prognathia 31 HP:0000303 4 pectus carinatum 31 HP:0000768 5 genu recurvatum 31 HP:0002816 6 myopia 31 HP:0000545 7 mitral valve prolapse 31 HP:0001634 8 arachnodactyly 31 HP:0001166 9 disproportionate tall [malacards.org]

• Fatigue

  It is often a symptomless condition but may be marked by varied symptoms (e.g. chest pain, fatigue, dizziness, dyspnea, or palpitations) leading in some cases to endocarditis or ventricular tachycardia. [ncbi.nlm.nih.gov]

  Erythema infectiosium/Fifth disease (Parvovuris B19 - smallest DNA virus, SS linear, (-) Chorea, dementia, caudate degeneration Huntington's disease (CAG tri-nucleotide repeat) - AD inheritance, anticipation Chronic exercise intolerance with myalgia, fatigue [studyblue.com]

  […] daytime sleepiness Atrial fibrillation Pes cavus Abnormality of the cerebral white matter Skeletal dysplasia Distal muscle weakness Facial palsy Anxiety Proximal muscle weakness Rigidity Proportionate short stature Hyporeflexia Narcolepsy Areflexia Fatigue [mendelian.co]

  […] syndrom Broad and waxy casts Chronic renal failure Sickle Cell Disease MC osteomyelitis cause MC sepsis cause osteomyelitis: salmonella sepsis: S. pneumo Calculated serum osmolality (2*Na) (glucose/18) BUN/2.8 Systemic Sclerosis: symptoms Systemic: fatigue [flashcardbook.com]

• Asymptomatic

  Patient was managed with implantable cardiac defibrillator and since then he is asymptomatic. On follow up for a year we reported the similar episodic VT in his real brother due to ARVD. [japi.org]

• Dyspnea

  It is often a symptomless condition but may be marked by varied symptoms (e.g. chest pain, fatigue, dizziness, dyspnea, or palpitations) leading in some cases to endocarditis or ventricular tachycardia. [ncbi.nlm.nih.gov]

  […] abdominal pain, hematuria Henoch-Schonlein purpura -IgA immune complex nephropathy ( Post- URI/GI sickness) Pancreatic, pituitary, parathyroid tumors Periorbital and/or peripheral edema, proteinuria, hypoalbuminemia, hypercholesterolemia Pink complexion, dyspnea [studyblue.com]

  We report here a case of a 15-year-old female who presented to our hospital with dyspnea as seen in the New York Heart Association (NYHA) Functional Classification class III and hemoptysis. [read.qxmd.com]

  […] buttocks/legs, joint pain/arthritis, abdominal pain (child, often following pharyngitis) Henoch-Schonlein purpura (IgA complex [typeIII] vasculitis affecting skin and kidneys) Pancreatic, pituitary, parathyroid tumors MEN I (auto dom) Pink complexion, dyspnea [memorize.com]

• Regurgitation

  Aortic regurgitation MedGen UID: 8153 • Concept ID: C0003504 • Disease or Syndrome An insufficiency of the aortic valve, leading to regurgitation (backward flow) of blood from the aorta into the left ventricle. [ncbi.nlm.nih.gov]

  […] valve prolapse 31 HP:0001634 8 arachnodactyly 31 HP:0001166 9 disproportionate tall stature 31 HP:0001519 10 lens subluxation 31 HP:0001132 11 long face 31 HP:0000276 12 pulmonic stenosis 31 HP:0001642 13 situs inversus totalis 31 HP:0001696 14 aortic regurgitation [malacards.org]

  However, in patients with a low ejection fraction of ARV, it is unclear how to best perform valve replacement for patients with regurgitation of SAVV. [read.qxmd.com]

  ECG was suggestive of LVH, 2D echo revealed a mildly dilated left ventricle with presence of intracavity sinusoids suggestive of non compaction cardiomyopathy with moderate eccentric mitral regurgitation and mild tricuspid regurgitation. [japi.org]

• Prognathism

  […] synopsis from OMIM®: 57 (Updated 05-Apr-2021) Skeletal Spine: scoliosis kyphosis Skeletal Limbs: genu recurvatum Cardiovascular Heart: mitral valve prolapse pulmonic stenosis dextrocardia aortic regurgitation Head And Neck Face: long face myopathic facies prognathism [malacards.org]

  Sinoatrial Block OMIM:601352 Mental Retardation, Microcephaly, Epilepsy, and Coarse Face OMIM:606242 Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, and Facial Dysmorphism OMIM:606772 Mental Retardation, Obesity, Mandibular Prognathism [informatics.jax.org]

  […] kinesigenic choreoathetosis Ehlers-Danlos syndrome, vascular type Anonychia-onychodystrophy with brachydactyly type B and ectrodactyly Corneal dystrophy and perceptive deafness Spondylocostal dysostosis Dandy-Walker complex Pontocerebellar hypoplasia type 6 Prognathism [checkrare.com]

• Mitral Valve Prolapse

  valve prolapse 31 HP:0001634 8 arachnodactyly 31 HP:0001166 9 disproportionate tall stature 31 HP:0001519 10 lens subluxation 31 HP:0001132 11 long face 31 HP:0000276 12 pulmonic stenosis 31 HP:0001642 13 situs inversus totalis 31 HP:0001696 14 aortic [malacards.org]

  Mitral valve prolapse MedGen UID: 7671 • Concept ID: C0026267 • Disease or Syndrome A fairly common and often benign valvular heart disorder characterized by redundancy or hooding of mitral valve leaflets so that they prolapse into the left atrium, often [ncbi.nlm.nih.gov]

  Valve Prolapse 1 Multiple Endocrine Neoplasia, Type IIB Proteus Syndrome Stickler Syndrome Stickler Syndrome, Type I Wolf-Hirschhorn Syndrome X-Linked Intellectual Disability With Marfanoid Habitus • • • Back to: « Disproportionate tall stature Causes [familydiagnosis.com]

  Diseases related with Cataract and Mitral valve prolapse In the following list you will find some of the most common rare diseases related to Cataract and Mitral valve prolapse that can help you solving undiagnosed cases. [mendelian.co]

• Tachycardia

  It is often a symptomless condition but may be marked by varied symptoms (e.g. chest pain, fatigue, dizziness, dyspnea, or palpitations) leading in some cases to endocarditis or ventricular tachycardia. [ncbi.nlm.nih.gov]

  Supraventricular tachycardia 2 members Supraventricular tachycardia is a heart disorder characterized by an abnormal fast heart rhythm. [rareshare.org]

  […] embryotoxon Dysphasia Hemiplegia Dysarthria Elevated serum creatine phosphokinase Stroke-like episode Unsteady gait Visual impairment Cerebral atrophy Retrognathia Failure to thrive Growth delay Dilated cardiomyopathy Cardiomyopathy Premature birth Tachycardia [mendelian.co]

  Clinical examination revealed tachypnoea, tachycardia with normal blood pressure and only hepatomegaly on systemic examination. There is no obvious cellulitis or clinical findings to pinpoint the source of sepsis. [japi.org]

• Chest Pain

  It is often a symptomless condition but may be marked by varied symptoms (e.g. chest pain, fatigue, dizziness, dyspnea, or palpitations) leading in some cases to endocarditis or ventricular tachycardia. [ncbi.nlm.nih.gov]

  Diagnosis of CAD was based on classical chest pain, ECG, echocardiography and/or CAG. [japi.org]

  pain on exertion Angina (stable: moderate exertion; unstable: minimal exertion) Chest pain, pericardial effusion/friction rub, persistent fever following MI Dressler's syndrome (autoimmune-mediated post-MI fibrinous pericarditis, 1-12 wks after acute [memorize.com]

• Palpitations

  It is often a symptomless condition but may be marked by varied symptoms (e.g. chest pain, fatigue, dizziness, dyspnea, or palpitations) leading in some cases to endocarditis or ventricular tachycardia. [ncbi.nlm.nih.gov]

  Case Report : A 16 year old male patient presented to the emergency department with complaints of chest pain, breathlessness, cough, palpitations. [japi.org]

  Symptoms Athletes suffering from ACHD may complain of cardiac symptoms such as exertional chest pain, dizziness, palpitations or syncope. Any drop in exercise capacity may also indicate significant cardiac limitation. [escardio.org]

• Cutis Laxa

  Cutis Laxa-Marfanoid Syndrome dextrocardia Fraser Jequier Chen Syndrome Hypoglossia with Situs Inversus Jeune Syndrome Situs Inversus Levocardia Loeys-Dietz syndrome Lujan Fryns Syndrome MARFAN LIPODYSTROPHY SYNDROME Marfan Syndrome Type 2 Marfanoid Habitus [rgd.mcw.edu]

  Laxa with Bone Dystrophy Cutis Laxa with Growth and Developmental Delay Cutis Laxa with or without Congenital Disorder of Glycosylation Cutis Laxa, Autosomal Recessive, Type IIA Cutis Laxa, Debre Type Cutis laxa, recessive type 2 Cyclophosphamide Teratogenic [wikidoc.org]

  Cutis Laxa-Marfanoid Syndrome is_a OMIM:154700 ! Marfan syndrome *** is_a OMIM:154750 ! Marfanoid Hypermobility Syndrome is_a OMIM:182212 ! Shprintzen-Goldberg Craniosynostosis Syndrome is_a OMIM:248760 ! [github.com]

  […] hypertension Isolated delta-storage pool disease Precursor T-cell acute lymphoblastic leukemia Amyotrophic lateral sclerosis Autosomal recessive cutis laxa type 1 Acute myeloid leukemia with CEBPA somatic mutations Inherited acute myeloid leukemia Cowden [csbg.cnb.csic.es]

  laxa Increased body weight Tall stature Oligohydramnios High, narrow palate Bruising susceptibility Arthrogryposis multiplex congenita Abnormality of the anus Abnormal nasolacrimal system morphology Hypopigmentation of the skin Sacral dimple Tricuspid [mendelian.co]

• Muscle Weakness

  The face appears expressionless with sunken cheeks, bilateral ptosis, and inability to elevate the corners of the mouth, due to muscle weakness. [ncbi.nlm.nih.gov]

  weakness Facial palsy Anxiety Proximal muscle weakness Rigidity Proportionate short stature Hyporeflexia Narcolepsy Areflexia Fatigue Tremor Optic atrophy Ataxia Ring fibers Percussion myotonia Obsessive-compulsive trait Progressive muscle weakness Decreased [mendelian.co]

  weakness in boys Becker's muscle dystrophy -X-linked missense mutation Small, irregular red spots on buccal/lingual mucosa with blue-white centers Koplik spots -Measles ( Rubeola virus) Smooth, flat, moist, painless white lesions on genitals Condyloma [studyblue.com]

  weakness in boys Becker's muscular dystrophy (X-link recessive missense mutation in dystrophin; less severe than Duchenne's) Small, irregular red spots on buccal/lingual mucosa with blue-white centers Koplik spots (measles; rubeola virus paramyxovirus [memorize.com]

• Hyperlaxity

  […] habitus ) is a constellation of symptoms resembling those of Marfan syndrome, including long limbs, with an arm span that exceeds the height of the individual, and a crowded oral maxilla, sometimes with a high arch in the palate, arachnodactyly, and hyperlaxity [en.wikipedia.org]

  Arthrogryposis multiplex congenita type 2B Arthrogryposis, distal, type 2E B Bd syndrome BenAriShuperMimouni syndrome BindewaldUlmerMuller syndrome Blepharophimosis telecanthus microstomia Blepharoptosis aortic anomaly BlethenWenickHawkins syndrome Body skin hyperlaxity [wikidoc.org]

• Lacrimation

  Other choristomas include ectopic lacrimal gland, simple and composed choristoma, and osseous choristoma. Ectopic lacrimal gland is the second most common choristoma affecting the epibulbar surface. [entokey.com]

  […] fibrosis, polydactyly, oral hamartomas Yes Autosomal recessive KAT6B-related disorders Genitopatellar syndrome, Say-Barber-Biesecker variant of Ohdo syndrome KAT6B mutation ASD, VSD, PFO Long thumbs/great toes, mask-like face, blepharophimosis/ptosis, lacrimal [thoracickey.com]

  Brachydactyly Mononen type Kniest like dysplasia lethal Pierson syndrome Retinal arterial macroaneurysm with supravalvular pulmonic stenosis Vascular hyalinosis Lujan syndrome Hydrocephalus obesity hypogonadism Tetraamelia with ectodermal dysplasia and lacrimal [checkrare.com]

• Blurred Vision

  Excess NH4 depletes α-ketoglutarate, inhibit TCA cycle Sx: tremor, slurring speech, somnolence, vomiting, cerebral edema, blurring vision Tx: limit protein in diet, benzoate or phenylbutyrate bind amino acid and excretion XR, excess carbamoyl phosphate [quizlet.com]

  Definition CO2 concentration; Hyperventilation will decrease cerebral blood flow -- dizziness, weakness, blurred vision Term name artery perforated in each ulcer location: 1) Proximal lesser curvature 2) Distal lesser curvature 3) Proximal greater curvature [flashcardmachine.com]

• Visual Hallucination

  hallucinations, extrapyramidal symptoms Huntingtons disease AD Affects caudate and putamen Age 35-44 - choreathetoid mvmt -behavioral disturbance -dementia Pseudodementia Major depression presenting as dementia (in elderly) Wernicke-Korsakoff Syndrome [flashcardbook.com]

• Myopathic Facies

  […] pulmonic stenosis dextrocardia aortic regurgitation Head And Neck Face: long face myopathic facies prognathism Cardiovascular Vascular: persistent left superior vena cava aortic root dilatation azygous connection Abdomen: situs inversus Chest Ribs Sternum [malacards.org]

  Myopathic facies MedGen UID: 90695 • Concept ID: C0332615 • Finding A facial appearance characteristic of myopathic conditions. [ncbi.nlm.nih.gov]

• Narrow Face

  Affected individuals have microcephaly, short stature, small testes, and dysmorphic facies, including tall narrow face, upslanting palpebral fissures, abnormal nasal configuration, cupped ears, and short philtrum. [mendelian.co]

• Dizziness

  It is often a symptomless condition but may be marked by varied symptoms (e.g. chest pain, fatigue, dizziness, dyspnea, or palpitations) leading in some cases to endocarditis or ventricular tachycardia. [ncbi.nlm.nih.gov]

  Definition CO2 concentration; Hyperventilation will decrease cerebral blood flow -- dizziness, weakness, blurred vision Term name artery perforated in each ulcer location: 1) Proximal lesser curvature 2) Distal lesser curvature 3) Proximal greater curvature [flashcardmachine.com]

  Symptoms Athletes suffering from ACHD may complain of cardiac symptoms such as exertional chest pain, dizziness, palpitations or syncope. Any drop in exercise capacity may also indicate significant cardiac limitation. [escardio.org]

  A 54 year old Police Inspector presented with episodic dizziness and transient loss of consciousness lasting few seconds with immediate recovery. He had history of sustaining a burn of his left calf few days previously. [japi.org]

• Headache

  If it is not treated with corrective lenses or surgery, nearsightedness can lead to squinting, eyestrain, headaches, and significant visual impairment.Nearsightedness usually begins in childhood or adolescence. [ncbi.nlm.nih.gov]

  […] fungoides Facial muscle spasm upon tapping Chvostek's sign (hypocalcemia) Fat, female, forty, and female Cholelithiasis (cholesterol gallstones: radiolucent due to calcifications) Charcot's triad of cholangitis: jaundice, fever, RUQ pain Fever, chills, headache [studyblue.com]

  […] cutaneous T cell lymphoma (NHL): mycosis fungoides, Sézary syndrome Facial muscle spasm upon tapping Chvostek's sign (hypocalcemia) Fat, female, forty, fertile acute cholelithiasis (gallstones) Cholesterol - radiolucent Pigment - radiopaque Fever, chills, headache [memorize.com]

  […] tumors Wermer's syndrome MEN type I Weight loss, diarrhea, arthritis, fever, and adenopathy Whipple's disease Malabsorbtion due to tropheryma whippelii Copper accumulation leading to hepatolenticular degeneration "wire loop" appearance on LM "worst headache [cram.com]

• Vertigo

  […] dribbling, incomplete emptying) -- cholinergic agonists prolonged profuse watery diarrhea cryptosporidium cyclospora giardia Meniere disease disorder of the inner ear pathophys: increased volume and pressure of endolymph - low freq tinnitus -episodic vertigo [flashcardbook.com]

Commonly in workup of hematologic abnormalities- PNH, fetal rbcs in mothers blood, immunodeficiencies ELISA-direct Used to detect the presence of a specific antigen in pts blood sample. [studystack.com]

We are presenting this case to highlight the importance of early and meticulous workup of hypertension in young to rule out secondary causes like coarctation and renal artery stenosis so that complications like hypertensive emergency and degenerative [japi.org]

The final section exclusively addresses the management of cardiovascular genetic disorders, specifically considering stem cell therapy, genetic counseling, pharmacogenomics and the social and ethical issues surrounding disease treatment. [books.google.com]

AIM: To assess clinical features, treatment and outcome of Hypothalamo-pituitary (HP) sarcoidosis and to determine whether HP is associated with a particular clinical phenotype of sarcoidosis. DESIGN:... [marseille-medical-genetics.org]

A delay in diagnosis and treatment may lead to corneal ulceration and perforation. [entokey.com]

Peak oxygen consumption (VO2max), gas exchange efficiency (VE/VCO2), oxygenation, blood pressure, oxygen pulse and ECG monitoring are all useful for determining prognosis and risk [6]. [escardio.org]

Incresed cardiothoracic ratio, LVEF less than 50% non thrombolysed patients and Ant Wall MI are poor prognosis factors in long term morbidity and mortality of AMI. [japi.org]

CCTGA is a rare disease; patients without frequently associated cardiac anomalies are considered to have long life expectancies; however, their prognosis remains unclear. [read.qxmd.com]

Jan 2009 Progress in the understanding of the genetic etiology of vertebral segmentation disorders in humans. [pubpdf.com]

BACKGROUND Neural tube defects (NTDs) are common human birth defects with a complex etiology. To develop a comprehensive knowledge of the genes expressed during normal neurulation, we established... Birth Defects Res. Part A-Clin. Mol. [marseille-medical-genetics.org]

If Pseudomonas is not recognized as the etiologic agent, the conjunctival infection may lead to endophthalmitis and possible death. [entokey.com]

Name of condition Other names Etiology Type of heart defect Associated features Testing available Inheritance Structural defects Septal defects 2q37 Deletion syndrome Albright hereditary osteodystrophy-like syndrome, brachydactyly mental retardation syndrome [thoracickey.com]

Tags: Genetic screening / counselling, Immunology (including allergy), Epidemiology Genotype-phenotype correlations Source Type: research Fanconi anaemia, BRCA2 mutations and childhood cancer: a developmental perspective from clinical and epidemiological [medworm.com]

Management of emergency care for patients with FBN1 gene mutation: epidemiological study. (ESHG - Barcelona, Mai 2016) A. Sorlin, A. Maruani, Y. Duffourd, P. Kuentz, M. Chevarin, J. St-Onge, T. Jouan, C. Thauvin-Robinet, L. Faivre, J. Rivière, P. [gad-bfc.org]

Giampietro, Sally L Dunwoodie, Kenro Kusumi, Olivier Pourquié, Olivier Tassy, Amaka C Offiah, Alberto S Cornier, Benjamin A Alman, Robert D Blank, Cathleen L Raggio, Ingrid Glurich, Peter D Turnpenny Vertebral malformations contribute substantially to the pathophysiology [pubpdf.com]

Assessing a patient with congenital heart disease The heterogeneity in pathophysiology and functional status of patients with CHD have led to the creation of a robust individualised algorithm which aims to individualise exercise prescription in this patient [escardio.org]

Prevent repolymerization (anti-Cancer) -Cochicine - Prevent Inflammation and ingestion of urate crystals in gout Microtubule Associated Disease -Chediak-Higashi -Can't make LYST, microtubule dependednt cargo sorting. [brainscape.com]

Cardiovascular pre-participation screening of young competitive athletes for prevention of sudden death: proposal for a common European protocol. [escardio.org]

Limit galactose in diet to prevent galactitiol accumulation Bloating, cramps, and osmotic diarrhea after eating pizza Lactase deficiency - can be AR or due to loss of brush border. [cram.com]

total occlusion - metalloproteases increase the likelyhood of this event by decreasing the structural integrity of the plaque Term 3-7 days after a burst berry aneurysm (subarachnoid hemorrhage) person loses cortical function What type of drug can prevent [flashcardmachine.com]

[…] short stature, webbed neck, lymphedema Sudden swollen/painful big toe joint, tophi Gout/podagra (hyperuricemia) Swollen gums, mucosal bleeding, poor wound healing, spots on skin Scurvy ( vitamin C deficiency) -defective proline/lysine hydroxylation (prevents [studyblue.com]