47, XXX (Trisomy X) · 47, XXY (Klinefelter Syndrome) · 48, XXYY Syndrome · 5,10 – Methenyltetrahydrofolate Synthetase Deficiency · Aarskog Syndrome.
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Rare Diseases · Acquired Partial Lipodystrophy · Acrodermatitis Enteropathica · Alkaptonuria (Black Urine Disease) · Carnitine Deficiency · Cerebrotendinous ...
What are the most common rare diseases? · Ehlers –Danlos Syndrome (EDS) · Sickle Cell · Cystic Fibrosis · Duchenne Muscular Dystrophy (DMD) · Haemophilia.
Rare diseases are characterised by a wide diversity of symptoms and signs that vary not only from disease to disease but also from patient to patient ...
Typically, it takes 5 years or more to receive a correct rare disease diagnosis. ... symptoms, an unusual presentation of a known rare condition, or the ...
This tool is dedicated to searching for a rare disease by clinical signs or symptoms. It must been used a search facility to find rare disease information ...
Profile of Rare Diseases - NCBI - National Institutes of Health (NIH)
www.ncbi.nlm.nih.gov › NBK56184
To have a rare disease is often to have a condition that goes undiagnosed for years while concerned physicians who have never seen the condition before may ...
For many rare diseases, signs may be observed at birth or in childhood, as is the case of proximal spinal muscular atrophy, neurofibromatosis, osteogenesis ...
Other Rare Diseases and Disorders We Treat at UPMC Children's Hospital · Adrenoleukodystrophy · Bare Lymphocyte Syndrome (BLS) · Byler Disease · CANDLE Syndrome ...
Specific expected symptoms include: multiple congenital anomalies, abnormalities (that you can see on physical exam or as internal organ malformations), ...