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Cardiomyopathy - Cataract - Hip Spine Disease Syndrome

Krasnow-Qazi Syndrome


Presentation

  • Severe depression or various neurotic behavioural patterns are the most common presentations.[patient.info]
  • Cardiac disease may be present in up to 33%.[emedicine.medscape.com]
  • Before the three cases presented in early 2014, cobalt toxicity has been reported in the literature.[the-rheumatologist.org]
  • They are less likely to present with lens dislocation. Key learning points Marfan syndrome can present with severe cardiac problems. Marfan syndrome can present in a very similar way to Homocystinuria and Ehler Danlos syndrome.[www2.le.ac.uk]
  • Symptoms present at birth, and continuous. [102] Symptoms may be present at birth or early infancy. [102] Purpuric rash presenting at birth or in infancy. Vasculitis noted on skin biopsy.[autoinflammatory-search.org]
Painful Cough
  • But as the condition advances or worsens, the following symptoms are usually seen: Bloating of the abdomen due to fluid buildup Breathlessness due to exertion or even at rest Chest pain Coughing while lying down Dizziness, lightheadedness and fainting[apollohospitals.com]
Heart Disease
  • Ane … Lutembacher’s Syndrome Lutembacher’s syndrome is a form of congenital heart disease.[checkrare.com]
  • disease Convulsions Coronary artery bypass or disease Coronary angioplasty Cystic fibrosis D Deafness Defibrillator Déjà vu Dementia Depression Diabetes Diabetic retinopathy Dilated cardiomyopathy Diplopia (double vision) Dizziness Drug misuse E Eating[gov.uk]
  • Disease Varicose Veins Venous Thrombosis Warts, Genital Part Two: Treatments and Procedures Amputation Artificial Airways: Endotracheal Tubes Basic Life Support for Health Care Providers Chemotherapy Chest Tubes and Pleural Drainage Dialysis Enteral[elsevier.com]
  • Heart defects Most people with Noonan syndrome have some form of congenital heart disease.[medicalnewstoday.com]
  • It is characterized by congenital heart disease, short stature, a broad and webbed neck, sternal deformity, variable degree of developmental delay, cryptorchidism, increased bleeding tendency, and characteristic facial features that evolve with age.[aafp.org]
Cardiomegaly
  • Chest X-ray is an auxiliary method that allows revealing the indirect signs of VSD: cardiomegaly (enlarged heart) and increased pulmonary vasculature.[bookinghealth.com]
  • Exercise intolerance Cardiac arrest Premature ovarian insufficiency Bilateral ptosis Easy fatigability Mitochondrial myopathy 3-Methylglutaconic aciduria Total cataract Exercise-induced lactic acidemia Hyporeflexia Limb muscle weakness Sensory impairment Cardiomegaly[mendelian.co]
  • Cardiac defects noted: ASD, VSD, PDA, mitral valve prolapse, cardiomegaly and other findings. [69] [70] Diabetes Mellitus. Hepatosplenomegaly. Abdominal pain, diarrhea, failure to thrive. Hypogonadism. [69] [70] Lymphadenopathy.[autoinflammatory-search.org]
Cyanosis
  • […] and Short philtrum, related diseases and genetic alterations High palate and Ectodermal dysplasia, related diseases and genetic alterations Breast carcinoma and Hypopigmentation of the skin, related diseases and genetic alterations Cleft palate and Cyanosis[mendelian.co]
Myopathy
  • Several phenotypes can occur: Miyoshi myopathy, anterior tibial myopathy, LGMD, and an axial myopathy.[emedicine.medscape.com]
  • Saunders, Philadelphia Google Scholar Wallgren-Petterson C (1998) Genetics of the Nemaline myopathies and the myotubular myopathies.[link.springer.com]
  • , and multiminicore myopathy.[rarediseases.org]
  • Learn more Other less relevant matches: Low match SENGERS SYNDROME Sengers syndrome is an autosomal recessive mitochondrial disorder characterized by congenital cataracts, hypertrophic cardiomyopathy, skeletal myopathy, exercise intolerance, and lactic[mendelian.co]
  • Myopathy involves both cardiac and skeletal muscles. Generalized hypotonia, exercise intolerance, and delayed motor development are important features in the majority of patients. Metabolic lactic acidosis occurs with relatively minimal excercise.[disorders.eyes.arizona.edu]
Seizure
  • You must give up your licence if either: your doctor tells you to stop driving for 3 months or more you do not meet the required standards for driving because of your medical condition A Absence seizures Acoustic neuroma Addison’s disease Agoraphobia[gov.uk]
  • Share this Table of Contents Abdominal Aortic Aneurysm Abdominal Adhesions Absence Seizures (Petit Mal Seizures) Achalasia ACL (Anterior Cruciate Ligament) Injuries Acne Acoustic Neuroma Sun-Damaged Skin Acute Pancreatitis Acute Prostatitis Acute Sinusitis[corp.credoreference.com]
  • Mental retardation and seizures may also occur in individuals with MEB disease.[rarediseases.org]
  • They can have hemiparesis, headaches, dizziness, seizures, mental retardation and strokes. Treatment is directed at controlling these complications.[bertsbigadventure.org]
Mental Deterioration
  • deterioration Lactic acidosis Aciduria Increased serum lactate Generalized muscle weakness Abnormal electroretinogram Exercise intolerance Cardiac arrest Premature ovarian insufficiency Bilateral ptosis Easy fatigability Mitochondrial myopathy 3-Methylglutaconic[mendelian.co]
  • Antibodies in the blood bind to the nerve cells and cause inflammation that can lead to seizures, paralysis on one side of the body, blindness in one eye, loss of speech and mental deterioration.[bertsbigadventure.org]
Delayed Speech and Language Development
  • speech and language development Type II diabetes mellitus Pancytopenia External ophthalmoplegia Aplasia/Hypoplasia of the cerebellum Vertigo Constriction of peripheral visual field Hyperglycemia Progressive sensorineural hearing impairment Macular dystrophy[mendelian.co]
Poor Coordination
  • Other symptoms include jerky eye movements, seizures, and poor coordination. While rare, hearing and vision problems can be seen. Physical and occupational therapies are used to treat the associated conditions.[bertsbigadventure.org]
Speech Disorders
  • disorders Skeletal 2, 4 Cubitus valgus Spinal abnormality (scoliosis, talipes equinovarus) Sternal deformities (pectus carinatum superiorly, pectus excavatum inferiorly) Skin conditions 2, 4 Dystrophic nails Extra prominence on pads of fingers and toes[aafp.org]

Treatment

  • Treatment - Krasnow Qazi syndrome Not supplied. Resources - Krasnow Qazi syndrome Not supplied.[checkorphan.org]
  • Surgery is the main treatment method in the case of VSD.[bookinghealth.com]
  • Treatment should not be stopped during pregnancy, although conversion to zinc treatment may be advantageous since D-penicillamine is classified as a teratogen.[patient.info]
  • Treatment uses diet and therapy to optimize bone mass and muscle strength. Orthopedic care is a pillar of treatment for these patients providing fracture care and treatment for scoliosis which is common for OI.[bertsbigadventure.org]
  • Bisphosphonates are the mainstay of treatment for Paget's disease of bone.[medicinenet.com]

Prognosis

  • Diagnosis - Krasnow Qazi syndrome These home medical tests may be relevant to Cardiomyopathy cataract hip spine disease: * Vision & Eye Health: Home Testing: o Home Eye Tests o Home Vision Tests Prognosis - Krasnow Qazi syndrome Not supplied.[checkorphan.org]
  • Long-term prognosis tends to depend on the presence and severity of heart defects.[medicalnewstoday.com]
  • It requires a more aggressive treatment plan and has a worse prognosis if the child relapses.[bertsbigadventure.org]
  • Prognosis Wilson's disease is a progressive disease and fatal if untreated. [ 13 ] Early treatment gives the best results and so, if there is a family history, screening may allow treatment to start in childhood before the onset of symptoms.[patient.info]
  • What is the prognosis for Paget's disease? The outlook is generally good, particularly if treatment is given before major changes in the affected bones have occurred.[medicinenet.com]

Etiology

  • The exact etiology is unknown but there is a higher incidence in people who also have immune abnormalities. Moyamoya has been diagnosed in people ages 6 months to 67 years.[bertsbigadventure.org]
  • This narrative review will describe the classification of LDS, genetic etiologies, cardinal clinical manifestations, and best-evidence management recommendations for the panoply of serious sequelae associated with this syndrome.[nature.com]
  • Etiology of limb girdle muscular dystrophy 1D/1E determined by laser capture microdissection proteomics. Ann Neurol. 2012 Jan. 71(1):141-5. [Medline]. Sarparanta J, Jonson PH, Golzio C, Sandell S, Luque H, Screen M.[emedicine.medscape.com]

Epidemiology

  • Epidemiology Wilson's disease is inherited as an autosomal recessive trait.[patient.info]
  • Age-appropriate guidelines for the management of Noonan syndrome are available. 1 Epidemiology Noonan syndrome is characterized by marked variable expressivity, which makes it difficult to identify mildly affected individuals.[aafp.org]
Sex distribution
Age distribution

Pathophysiology

  • Key Features Disorders section covers commonly encountered medical-surgical conditions in a consistent, clinically-relevant format that includes: Definition/Description Pathophysiology Clinical Manifestations Complications Diagnostic Studies Interprofessional[elsevier.com]
  • However, a study from China examining stent-graft repair of acute type B dissection demonstrated that retrograde dissection was the main complication of stent grafting in individuals with Marfan syndrome. 41 Due to similarities in underlying pathophysiology[nature.com]
  • Multiple functions are described, but the pathophysiologic basis for LGMD1B is unknown.[emedicine.medscape.com]

Prevention

  • Causes - Krasnow Qazi syndrome Other Possible Causes of these Symptoms * Cataract * Enlarged heart * Flattened vertebrae * Impaired joint mobility Prevention - Krasnow Qazi syndrome Not supplied.[checkorphan.org]
  • Prevention and outlook As many cases of Noonan syndrome occur randomly, there is currently no known way to prevent the condition developing.[medicalnewstoday.com]
  • The proteins make the lens cloudy and prevents light from passing through, which causes vision loss. Younger people get them, but they generally affect most people as they age.[health.clevelandclinic.org]
  • Zinc prevents the absorption of copper but chelation should continue for two to three weeks after it has been started, as the onset is slow.[patient.info]
  • Is it possible to prevent Paget's disease? There is no way to prevent Paget's disease of bone. Where can I find more information about Paget's disease? For further information, contact the Paget's Disease Foundation.[medicinenet.com]

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