These are some of the conditions we are currently monitoring, if you have something thats not on here, please sign up at the link below: rarediseases.co.za/patients-families/become-a-member/ When you see it like this you realize just how many rare diseases are out there! 22q11.2 deletion syndrome Acute Intermittant Porphyria Acromegaly Addisons Desease Adrenocortical Carcinoma diagnosed in 2009 Adrenoleukodystrophy Allan Herndon Dudley syndrome. Alstrom Syndrome Alternating Hemiplegia of Childhood Disease Angelman Syndrome Aniridia Antiphospholipid disease Ataxia Autosomal Recessive Polycystic Kidney Disease Auto-immune pancreatitis BARN Behcets Syndrome Bilateral Acute Retinal Necrosis (aka BARN) Blepharospasm Bullous Phemphgoid CCAM Celiac Disease CEREBELLAR ATAXIA Chromosome4p(12-15) duplication Chronic ITP Chronic Reoccurring Idiopathic Angioedema / Primary Angioedema Chordoma Ciliary Dyskinesia CIPD Cloves syndrome Chronic Kidney Disease Congenital disorder of glycosylation Congenital hyperinsulinism Congenital Adrenal Hyperplasia 21 and 17 Congenital cystic adenomatoid malformation Costello Syndrome Cotard Syndrome Craniopharyngioma Crohns Disease - Inflammatory Bowel Disease Cushings disease Cutaneous mastocytosis (TMEP) Cyclic neutropenia Cystic Fibrosis Cystinosis Dercums disease Devic syndrome Diabetes Insipidis Dysautonomia Diaphragmatic Hernia Hypospadia Dravet syndrome Ectordermal Dysplasia Ehlers-danlos syndrome Epilepsy Epidermolysis Bullosa Epilepsy Ependymoma Erdheim-Chester disease Erythematous Generalised Pustular Psoriasis Fabry disease Fahrs syndrome Facioscapulohumeral muscular dystrophy Fibromialgia Floating Harbor Gauchers Disease Type 1 Global developmental delay and demyelination of the brain. Glutaric Aciduria Type II Giant cell Arteritis Goldehar Syndrome Graves disease Growth Hormone Deficiency Guillain barre Syndrome Harlequin Ichthyosis Hereditary spherocytosis Hirschsprung disease HLH Hughes syndrome Hunter syndrome Huntingtons Disease Hurler Syndrome MPS1 Hypospadia Hypogamaglobulinemia Hypopastic dysplastic kidney Infantile Refsums Disease Intercranial Hypertension Isovaleric Acidemia ITP Juvenile Psoriatic Arthritis. Killian teschler nicola syndrome Klippel Trenaunay Kabuki Syndrome Kawasaki Disease Kleefstra Klippel-feil syndrome Late Infantile Battens Disease Lennox-Gestaut syndrome Leukodystrophy with Vanishing White Matter Disease Lichen Planus of the skin Lissencephaly Long QT Syndrome Lupus Lymes Disease Lymphoedema Marfans Syndrome Mannose binding lectin deficiency Mastocytosis MEN 2b sydrome Micro deletion in the region 21q22.13 to 21q22.3 Micro duplication on x chromosome Migrating partial epilepsy of infancy (MPEI) Mitochondrial encephalomyopathy Mitochondrial Myopathy Complex iv Mitochondrial respiratory chain deficit complex 1 Mohr Tranebjearg Syndrome Myeloma Multiple hereditary exostoses / Multiple osteochondromatosis Multiple sclerosis Multiple System Atrophy Muscle dystrophic fshd Myasthenia Gravis Myxoid Liposarcoma Nephrotic syndrome Neurofibromatosis Niemann-Pick Olliers syndrome Osler Wber Rendu Syndrome or HHT (Hereditary Hemorrhagic Telangiectasia) Osteoarthritis in spine Osteogenisis Imperfecta Osteogenisis Imperfecta Type III Pachygyria Pachyonychi Congenita Paroxsmal Nocturnal Hemolobinuria Pierre Robin Sequence Pompe Disease PRKAGE2 Prader willi syndrome Primary Immune Deficiency Primary Sclerosing Cholengitis Progressive Supranural Palsy Pseudohypoaldosteronism type 1 Psoriasis Postural Orthostatic Tachycardia syndrome (POTS) Pulmonary arterial hypertension Pulmonary Hypertension Refetoff Syndrome Rett syndrome Ring Chromosome 18. ROHHAD Syndrome Russell Silver Syndrome Sacrococcygeal teratoma Sarcoidosis Schinzel Gideon Syndrome Sickle Cell disease Sjogrens syndrome Sotos Syndrome Spinal muscular atrophy Spinal myoclonus Spinocerebellar (SCA 1) Sporadic Aniridia Systemic Mastiocytosis Tolosa Hunt Syndrome Transverse Myelitis C2-C7 Transverse Myelitis C3-C7 Trigimenal Neuralgia Tuberous Sclerosis Tyrosinemia Trysomy 18 Urea Cycle Disorder Variegate Porphyria Vanishing White Matter disease Von Hippel Lindau. (Vhl) Vascular neuropathy - Peripheral Von Willebrands Disease Wegeners Granulomatosis (Granulomatosis with polyangiitis) West syndrome Wolf/Parkinson white
Posted on: Thu, 04 Dec 2014 13:11:30 +0000
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