Visit our General Rare Disease page or browse by condition below.
All Rare Disease Topics
- Achondroplasia
- Addison's Disease
- Adrenal Insufficiency
- Adrenoleukodystrophy
- Aicardi Syndrome
- Alagille Syndrome
- Albinism
- Allan-Herndon-Dudley Syndrome
- ALS (Lou Gehrig's Disease)
- Angelman Syndrome
- Antiphospholipid Syndrome
- Apert Syndrome
- Autoimmune Autonomic Ganglionopathy
- Autoimmune Hepatitis
- Avascular Necrosis
- Babesiosis
- Bardet-Biedl Syndrome
- Beckwith-Wiedemann Syndrome
- Behcet's Disease
- Beta Thalassemia
- Bohring-Opitz Syndrome
- Bronchiectasis
- Brown-Vialetto-Van Laere Syndrome
- Canavan Disease
- Cantú Syndrome
- Cardiofaciocutaneous Syndrome
- Charcot-Marie-Tooth Disease
- CHARGE Syndrome
- Chiari Malformation
- Chromosome 12, Microdeletion
- Citrullinemia
- CLOVES Syndrome
- Coffin-Siris Syndrome
- Common Variable Immune Deficiency
- Complex Regional Pain Syndrome
- Congenital Adrenal Hyperplasia
- Congenital Central Hypoventilation Syndrome
- Congenital Diaphragmatic Hernia
- Congenital Generalized Lipodystrophy
- Conradi-Hunermann Syndrome
- Cornelia de Lange Syndrome
- Costello Syndrome
- Craniosynostosis
- Cri du Chat Syndrome
- Crouzon Syndrome
- CSF Leak (Spinal)
- Cyclic Vomiting Syndrome
- Cystinosis
- Dandy-Walker Syndrome
- Dercum's Disease (Adiposis Dolorosa)
- Dermatomyositis
- Dermatomyositis (Juvenile)
- Dravet Syndrome
- Duchenne Muscular Dystrophy
- Dup 15q Syndrome
- Dwarfism
- Dyskeratosis Congenita
- Ectrodactyly Ectodermal Dysplasia Cleft Lip/Palate
- Eosinophilic Esophagitis
- Eosinophilic Fasciitis
- Epidermolysis Bullosa
- Erdheim-Chester Disease
- Erythromelalgia
- Familial Adenomatous Polyposis
- Fetal Alcohol Spectrum Disorders
- Fibromyalgia
- Focal Dermal Hypoplasia (Goltz syndrome)
- Food Protein-Induced Enterocolitis Syndrome (FPIES)
- Fragile X Syndrome
- Gastroschisis
- Gaucher Disease
- Generalized Gangliosidoses
- Glutaric Acidemia
- GM1 Gangliosidosis
- Graft-Versus-Host Disease
- Granulomatosis with Polyangiitis (GPA)
- GRIN2B
- Guillain-Barre Syndrome
- Helsmoortel-Van Der Aa Syndrome
- Hemangioma
- Hemicrania Continua
- Hemiplegic Migraine
- Hemophilia
- Hereditary Inclusion Body Myopathy (HIBM)
- Heterotaxy Syndrome
- Hirschsprung's Disease
- Hunter Syndrome
- Huntington's Disease
- Hurler Syndrome
- Hutchinson-Gilford Progeria Syndrome
- Hydrocephalus
- Hypersomnia
- Hypophosphatasia
- Idic 15
- Intracranial Hypertension
- Ivemark Syndrome
- Jansen's Metaphyseal Chondrodysplasia
- Joubert Syndrome
- Kabuki Syndrome
- KIF1A Disorder
- Klippel-Feil Syndrome
- Krabbe Disease
- L1 Syndrome
- Langerhans Cell Histiocystosis
- Lennox-Gastaut Syndrome
- Leukodystrophy
- Lewy Body Dementia
- Lissencephaly
- Long QT Syndrome
- Marfan Syndrome
- Mast Cell Activation Disorder
- McCune-Albright Syndrome
- Medullary Sponge Kidney (MSK)
- Melkersson-Rosenthal Syndrome
- Meniere's Disease
- Menkes Disease
- Mesothelioma
- Microcephaly
- Misophonia
- Mitochondrial Disease
- Mixed Connective Tissue Disease (MCTD)
- Moebius Syndrome
- More Diseases
- Mucopolysaccharidoses
- Multiple Chemical Sensitivity
- Multiple Endocrine Neoplasia Type 2
- Multiple Hereditary Exostoses
- Myasthenia Gravis
- Myeloproliferative Neoplasms
- Narcolepsy
- Necrotizing Enterocolitis
- Nemaline Myopathy
- Neuroblastoma
- Neurofibromatosis
- Neurofibromatosis Type 1
- Neurofibromatosis Type 2
- NGLY1 Deficiency
- Occipital Neuralgia
- Osteogenesis Imperfecta
- Osteosarcoma
- Panhypopituitarism
- Parkes Weber Syndrome
- Pelizaeus-Merzbacher Disease
- Periodic Paralysis
- Pitt-Hopkins Syndrome
- PMM2-CDG
- Polymicrogyria
- Prader-Willi Syndrome
- Prematurity
- Primary Ciliary Dyskinesia
- Primary Immunodeficiency
- Progeria
- Propionic Acidemia
- Pulmonary Hypertension
- Rare Disease
- Reflex Sympathetic Dystrophy Syndrome
- Relapsing Polychondritis
- Rett Syndrome
- Ring 22 Syndrome
- Rubinstein-Taybi Syndrome
- Saethre-Chotzen Syndrome
- Sanfilippo Syndrome
- Sarcoidosis
- SATB2-Associated Syndrome
- Schwartz-Jampel Syndrome
- Scimitar Syndrome
- Scleroderma
- Seizure Disorder
- Septo-Optic Dysplasia
- Severe Combined Immunodeficiency (SCID)
- Short Bowel Syndrome
- Smith-Magenis syndrome
- Snyder-Robinson Syndrome
- Sotos Syndrome
- Spinal Muscular Atrophy
- Stevens-Johnson Syndrome
- Stickler Syndrome/ Pierre-Robin Stickler Syndrome
- Stiff-person Syndrome
- Sturge-Weber Syndrome
- Syringomyelia
- Systemic Sclerosis
- Takayasu's Arteritis
- Tay-Sachs Disease
- Tethered Spinal Cord Syndrome
- Thoracic Outlet Syndrome
- Transverse Myelitis
- Trigeminal Neuralgia
- Trimethylaminuria (Fish Odor Syndrome)
- Trisomy 18/Edwards' Syndrome
- Trisomy 5q
- Tuberous Sclerosis Complex
- Type I, II, & III Autoimmune Polyglandular Syndromes
- Uncategorized Disorders
- Undiagnosed
- Urea Cycle Disorder
- VACTERL
- von Hippel-Lindau Syndrome (VHL)
- Warburg Micro syndrome
- Williams Syndrome
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