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]

• Fear

  There may be significant emotional burden related to medical appointments and surgical interventions, the natural history of the disease in the extended family, feelings of isolation or unfairness, and/or fear of the future, both for the affected individual [nature.com]

More Symptoms of Cardiomyopathy cataract hip spine disease » Diagnosis See also related information on diagnosis: Diagnosis of Cataracts Treatments See also the following treatment articles: Treatments for Cataracts Causes See also causal information: [familydiagnosis.com]

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]

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]

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 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]

Clinical Epidemiology 2021; : 13 doi: 10.2147/CLEP.S286623 4 Yangyang Li, Ying Zhou, Minghui Zhao, Jing Zou, Yuxiao Zhu, Xuewen Yuan, Qianqi Liu, Hanqing Cai, Cong-Qiu Chu, Yu Liu. [wjgnet.com]

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]

Molecular and Pathophysiological Links between Metabolic Disorders and Inflammatory Bowel Diseases. International Journal of Molecular Sciences 2021; 22(17): 9139 doi: 10.3390/ijms22179139 22 Alice B. Gottlieb, Joseph F. Merola. [wjgnet.com]

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]

[…] age, blood pressure, smoking, body mass index, and low-density lipoprotein cholesterol, we analyzed this relation separately in the Framingham Heart Study (FHS), Lipid Research Clinics Prevalence Mortality Follow-up Study (LRCF) and Coronary Primary Prevention [ahajournals.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]