Nephrogenic Systemic Fibrosis (NSF) is a rare disorder causing progressive skin hardening and organ fibrosis in kidney disease patients exposed to MRI contrast dye.
Learn more: https://dub.sh/NSF1
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Hereditary Hemorrhagic Telangiectasia (HHT) is a rare inherited disorder causing fragile, malformed blood vessels that bleed easily in the nose, lungs, brain & liver. Most cases go undiagnosed.
Learn more: curehht.org
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Lamellar Ichthyosis is a rare genetic skin disorder present from birth, covering the body in large, dark, plate-like scales. It impairs sweating and can restrict movement. There is no cure.
Learn more https://dub.sh/lamellar
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Granulomatosis with Polyangiitis (GPA) is a rare autoimmune disease that inflames blood vessels in the airways, lungs & kidneys. Remission is possible but relapse is common.
Learn more: https://vasculitisfoundation.org/
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Neonatal Hemochromatosis (NH) is a rare, life-threatening disorder where maternal antibodies attack the fetal liver before birth, causing iron overload & liver failure in newborns.
Learn more: https://dub.sh/NH01
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Confluent & Reticulated Papillomatosis (CARP) is a rare skin disorder causing a striking net-like pattern of brown, scaly plaques on the trunk & neck of teens & young adults.
Learn more: https://dub.sh/1CARP
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Primary Sclerosing Cholangitis (PSC) is a rare progressive liver disease that scars the bile ducts, causing liver failure over time. With no approved treatments, liver transplant is the only cure.
Learn more: pscpartners.org
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Stiff Person Syndrome: A rare autoimmune disorder causing progressive muscle rigidity & agonizing spasms triggered by noise, touch, or stress. Affects ~1 in 1 million, no cure exists.
Learn more: stiffperson.org
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Parry-Romberg Syndrome: A rare disorder where skin, fat & bone on one side of the face slowly waste away. Onset in childhood, cause unknown, and the tissue loss is permanent.
Learn more: parryromberg.org
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Fatal Familial Insomnia (FFI): A rare prion disease that destroys the brain's ability to sleep. Progressive, untreatable insomnia leads to hallucinations, dementia & death within months.
Learn more: https://dub.sh/aXYVQsE
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Proteus Syndrome is an ultra-rare mosaic genetic disorder causing progressive, asymmetric overgrowth of bones, skin & organs in random patches.
Learn more: https://www.proteus-syndrome.org
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Lesch-Nyhan Syndrome (LNS): A rare X-linked disorder causing uric acid buildup, neurological damage, and a heartbreaking compulsion to self-injure.
Learn more: https://dub.sh/lesch
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Buruli Ulcer is a neglected tropical disease caused by Mycobacterium ulcerans, producing a toxin that destroys skin and tissue painlessly. It can cause permanent disability if untreated.
Learn more: https://dub.sh/Buruli
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Pemphigus Vulgaris is a rare autoimmune disease causing painful blisters on skin and mucous membranes. It is potentially fatal without treatment.
Learn More: pemphigus.org
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Primary Ciliary Dyskinesia (PCD) is a rare inherited disorder causing defective cilia, leading to chronic respiratory infections, organ abnormalities, and infertility.
Learn more: pcdfoundation.org
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Pantothenate Kinase-Associated Neurodegeneration (PKAN) is a rare inherited brain disorder causing iron buildup in the basal ganglia, leading to progressive loss of movement, speech, & cognition
Learn more: nbiadisorders.org
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Juvenile Dermatomyositis (JDM) a rare autoimmune disease where the immune system attacks the blood vessels supplying the muscles and skin, causing progressive muscle weakness and a distinctive skin rash
Learn more curejm.org
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Osteosarcoma is a rare and aggressive form of bone cancer that arises when bone-forming cells (osteoblasts) become malignant and produce abnormal, weakened bone tissue.
Learn more: https://osinst.org/
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Idiopathic Intracranial Hypertension (IIH) aka pseudotumor cerebri, is a condition in which cerebrospinal fluid builds up and pressure inside the skull rises without any identifiable cause
Learn more: ihrfoundation.org/
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Eales Disease is a rare inflammatory disorder of the retinal blood vessels, with inflammation of the peripheral retinal veins, blockage of blood flow, and abnormal growth of new blood vessels
Learn more: https://dub.sh/Eales
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Mucoepidermoid Carcinoma (MEC) is the most common malignant tumor of the salivary glands, comprising three cell types: mucus-secreting, squamous, and intermediate cells.
Learn more: https://dub.sh/luZ2TNS
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Birt-Hogg-Dubé Syndrome (BHD): A rare genetic disorder causing benign skin tumors, lung cysts, & kidney tumors. Caused by FLCN gene mutations. Autosomal dominant inheritance.
Learn more: https://www.thebhdfoundation.org/
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3-Hydroxy-3-Methylglutaryl-CoA (HMG-CoA) Synthase Deficiency: ultra-rare inherited disorder impairing ketone production, causing life-threatening metabolic crises during fasting or illness.
Learn more: https://dub.sh/HMGCoA
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Multicentric Reticulohistiocytosis (MRH) - rare, multisystem non-Langerhans cell histiocytosis of unknown cause, characterized by papulonodular skin lesions & progressive, erosive polyarthritis
Learn more https://dub.sh/MRHd
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Long QT Syndrome (LQTS) is a disorder of the heart's electrical system in which the ventricles take longer than normal to recharge between beats, creating a prolonged QT interval on an electrocardiogram.
Learn more: sads.org
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Low Phospholipid-Associated Cholelithiasis (LPAC) Syndrome: Low bile phospholipids cause cholesterol to crystallize, forming stones in both the gallbladder and liver (intrahepatic lithiasis).
Learn more: https://dub.sh/LPAC
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Lymphangioleiomyomatosis (LAM) is a rare, progressive lung disease where abnormal cells form destructive cysts in the lungs, lymphatic system, and kidneys, obstructing airways.
Learn more https://dub.sh/lymph
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Myofibrillar Myopathies (MFM) are a group of rare inherited muscle disorders characterized by the breakdown and disorganization of the myofibrils leading to progressive muscle weakness.
Learn more: https://dub.sh/mfms
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Membranous Nephropathy (MN) is a rare kidney disorder in which the immune system attacks the filtering membranes of the kidney (glomeruli), causing protein to leak into the urine.
Learn more: https://dub.sh/recQeKZ
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Takotsubo Cardiomyopathy is a temporary and usually reversible condition in which the left ventricle suddenly weakens and balloons out, mimicking the symptoms of a heart attack.
Learn more: takotsubo.net
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