Find a rare condition from our list of selected rare conditions.
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16p11.2p12.2 Microdeletion Syndrome
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17p11.2 Microduplication Syndrome
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22q11.2 Deletion Syndrome
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Beckwith-Wiedemann Syndrome
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Charcot-Marie-Tooth Disease Type 1
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Miller-Dieker Syndrome
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Mosaic Trisomy 16
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Rubinstein-Taybi Syndrome Due to 16p13.3 Microdeletion
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Smith-Magenis Syndrome
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Tetrasomy 12p
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Trichorhinophalangeal Syndrome Type 2
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Trisomy 18
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Turner Syndrome
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Williams Syndrome
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46,XY Disorder of Sex Development Due to 5-Alpha-Reductase 2 Deficiency
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Alagille Syndrome
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Androgen Insensitivity Syndrome
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Bardet-Biedl Syndrome
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Campomelic Dysplasia
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Congenital Adrenal Hyperplasia
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Denys-Drash Syndrome
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Fraser Syndrome
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Joubert Syndrome
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Meckel Syndrome
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Nephronophthisis
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Townes–Brocks Syndrome
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Amyotrophic Lateral Sclerosis
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Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome
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Becker Muscular Dystrophy
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Cap Myopathy
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Central Core Disease
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Centronuclear Myopathy
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Duchenne Muscular Dystrophy
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Emery-Dreifuss Muscular Dystrophy
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Facioscapulohumeral Dystrophy
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Huntington Disease
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Kennedy Disease
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Laing Distal Myopathy
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Limb-Girdle Muscular Dystrophy
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Myotonic Dystrophy
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Nemaline Myopathy
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Spinal Muscular Atrophy
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Spinocerebellar Ataxia
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Ectodermal Dysplasia Syndrome
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Epidermolysis Bullosa
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Familial Mediterranean Fever
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Fanconi Anemia
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Hemophilia
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Hereditary Angioedema
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Hereditary Spherocytosis
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Ichthyosis Vulgaris
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Mastocytosis
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Palmoplantar Keratoderma I, Striate, Focal, or Diffuse
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Severe Combined Immunodeficiency Due to Adenosine Deaminase Deficiency
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Sickle Cell Anemia
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Wiskott-Aldrich Syndrome
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X-Linked Lymphoproliferative Disease
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X-Linked Sideroblastic Anemia
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Aicardi-Goutières Syndrome
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Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
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Childhood Absence Epilepsy
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Cockayne Syndrome
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Dravet Syndrome
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Floating-Harbor Syndrome
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Fragile X Syndrome
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Infantile Epileptic Spasms Syndrome
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Lennox-Gastaut Syndrome
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Lissencephaly Syndromes
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Periventricular Nodular Heterotopia
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Rett Syndrome
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Aniridia
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Antley-Bixler Syndrome
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Apert Syndrome
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Branchio-Oto-Renal (BOR) Syndrome
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Carpenter Syndrome
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Cat-Eye Syndrome
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CHARGE Association
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Choroideremia
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Cone-Rod Dystrophy
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Crouzon Syndrome
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Ectopia Lentis
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Leber Congenital Amaurosis
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Lenz Microphthalmia
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Pendred Syndrome
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Pfeiffer Syndrome
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Pierre Robin Sequence
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Retinitis Pigmentosa
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Saethre-Chotzen Syndrome
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Stargardt Disease
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Stickler Syndrome
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Treacher-Collins Syndrome
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Usher Syndrome
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Van der Woude Syndrome
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Waardenburg Syndrome
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Arrhythmogenic Ventricular Cardiomyopathy
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Bicuspid Aortic Valve (BAV)
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Bronchiectasis
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Brugada Syndrome (BrS)
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Catecholaminergic Polymorphic Ventricular Tachycardia
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Cri du Chat Syndrome
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Dilated Cardiomyopathy
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Ehlers-Danlos Syndrome (EDS)
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Familial Cerebral Cavernous Malformation
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Familial Hypercholesterolemia
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Familial Transthyretin Amyloidosis
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Glomuvenous Malformation
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Hereditary Hemorrhagic Telangiectasia
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Holt-Oram Syndrome
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Interstitial Lung Disease Due to SP-C Deficiency
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Jervell & Lange-Nielsen Syndrome
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Klippel-Trénaunay-Weber Syndrome
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Left Ventricular Noncompaction
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Loeys-Dietz Syndrome
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Marfanoid Habitus-Inguinal Hernia-Advanced Bone Age Syndrome
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Noonan Syndrome
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Parkes Weber Syndrome
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Primary Ciliary Dyskinesia
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Pulmonary Arterial Hypertension
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Sarcoidosis
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Shprintzen-Goldberg Syndrome
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VACTERL/VATER Association
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Ataxia-Telangiectasia
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Blackfan-Diamond Anemia
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Bloom Syndrome
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CLOVES Syndrome
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Coffin-Siris Syndrome
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Cornelia de Lange Syndrome
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DICER1 Tumor Predisposition
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Ear-Patella-Short Stature Syndrome
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Gorlin Syndrome
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Hereditary Pheochromocytoma-Paraganglioma
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Hoyeraal-Hreidarsson Syndrome
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Kabuki Syndrome
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Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome (MCAP)
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Mosaic Genome-Wide Paternal Uniparental Disomy
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Peutz-Jeghers Syndrome
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PTEN Hamartoma Tumor Syndrome
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Retinoblastoma
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Schwannomatosis
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Simpson-Golabi-Behmel Syndrome
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Sotos Syndrome
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Sturge-Weber Syndrome
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Tuberous Sclerosis
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Von Hippel Lindau
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Weaver Syndrome
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Werner Syndrome
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Wiedemann-Steiner Syndrome
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Chronic Visceral Acid Sphingomyelinase Deficiency
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Congenital Disorders of Glycosylation (CDG)
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Friedreich Ataxia
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Gaucher Disease
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Glycogen Storage Disease Due to Acid Maltase Deficiency
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Glycogen Storage Disease Due to Glucose-6-Phosphatase Deficiency
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Kearns-Sayre Syndrome (KSS)
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Leigh Syndrome
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Lysosomal Acid Lipase Deficiency
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Maple Syrup Urine Disease
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MELAS
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Metachromatic Leukodystrophy
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Mitochondrial Neurogastrointestinal Encephalomyopathy
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Mucopolysaccharidosis Type I (Hurler Syndrome)
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Myoclonic Epilepsy with Ragged Red Fibers (MERRF)
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Phenylketonuria
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Propionic Acidemia
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Smith-Lemli-Opitz Syndrome
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Urea Cycle Disorder
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Zellweger Syndrome
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Image courtesy Positive Exposure in collaboration with PHACE Syndrome Community.