You also have the option to opt-out of these cookies. This list includes the main name for each condition, as well as alternate names.

Medical experts and representatives of patient organizations who would like to assist NORD in developing reports on topics not currently covered in this database may write to [email protected] . We hope you are enjoying HealthHearty! If you have problems viewing PDF files, download the latest version of Adobe Reader, For language access assistance, contact the NCATS Public Information Officer, Genetic and Rare Diseases Information Center (GARD) - PO Box 8126, Gaithersburg, MD 20898-8126 - Toll-free: 1-888-205-2311, expand submenu for Find Diseases By Category, expand submenu for Patients, Families and Friends, expand submenu for Healthcare Professionals. Absence of corpus callosum with unusual facial appearance, mental deficiency, duplication of the halluces and polydactyly - See Acrocallosal syndrome, Schinzel type Absence of dermatoglyphics congenital milia - See Absence of fingerprints congenital milia Absence of fingerprints - See Adermatoglyphia Absence of fingerprints congenital milia These patients also have distinctive facial features, micrognathia of mandible (jaw grows a lot during puberty), high-pitched voice, dilated blood vessels (not only in skin but also in the eyes), prominent nose and ear, etc. It causes impairment of multiple organ system due to accumulation of lipids. Whole30 Cheat Sheet Pointers to Make Grocery Shopping a Cinch, The Top Companies for Keto Diet Meal Delivery. There are many more symptoms associated with this disease like diabetes, infertility in males (women generally have reduced fertility and experience early menopause), chronic obstructive lung disease (COPD), learning disabilities, etc. It is also known as cerebrohepatorenal syndrome, and is characterized by reduction or absence of functional peroxisomes (organelles present in all eukaryotic cells) in the cells of an individual and impaired brain development. By using Verywell Health, you accept our, Eastern Equine Encephalitis: Symptoms, Causes, and Treatment, Marburg Virus: Symptoms, Causes, Diagnosis, and Treatment, John Cunningham Virus: Symptoms,Causes, and Treatment, Amoeba Infections That Cause Brain Disease, Guinea Worm Disease: Symptoms, Causes, and Treatment, Elephantiasis: Symptoms, Causes, Diagnosis, Treatment, Babesiosis: Symptoms, Causes, Diagnosis, and Treatment, Smallpox: Signs, Symptoms, and Complications, River Blindness: Symptoms, Causes, Diagnosis, Treatment, Hookworm: Symptoms, Causes, Diagnosis, and Treatment. This is also a rare genetic disorder. 6789 Quail Hill Pkwy, Suite 211 Irvine CA 92603. Out of these cookies, the cookies that are categorized as necessary are stored on your browser as they are essential for the working of basic functionalities of the website.

What Companies Offer the Best Paleo Meal Delivery Service? As with any other condition, staying informed and working with your healthcare team can help you prepare for whatever ails you.

This category only includes cookies that ensures basic functionalities and security features of the website. The rash looks like a butterfly shaped patch of red skin on the cheeks. Some conditions that are not considered rare are on this list and are labeled accordingly. Browse the GARD list of rare diseases and related terms to find topics of interest to you. Rare Diseases. Paroxysmal Nocturnal Hemoglobinuria: Overview and More, Amyotrophic Lateral Sclerosis (ALS) Disorder Info, Transposition of the Great Arteries: Overview and More, Antiphospholipid Syndrome: Overview and More, Treacher Collins Syndrome: Symptoms, Causes, Diagnosis, Treatment, and Coping, Genetic Predisposition: What It Is and How It Works, Familial Cold Autoinflammatory Syndrome: Overview and More, Autoinflammatory Diseases: Overview and More, Periodic Fever Syndromes: Overview and More, Saethre Chotzen Syndrome: Overview and More, X-linked Hypophosphatemia: Overview and More, Duodenal Atresia: Symptoms, Causes, Diagnosis, and Treatment, Goldenhar Syndrome: Symptoms, Causes, Diagnosis, Treatment, and Coping, Amelogenesis Imperfecta: Symptoms, Causes, Diagnosis, and Treatment, Ehlers-Danlos Syndrome: Symptoms, Causes, Diagnosis, Treatment, and Coping, Fragile X Syndrome: Symptoms, Causes, Diagnosis, Treatment, and Inheritance, Kabuki Syndrome: Symptoms, Causes, Diagnosis, Treatment, and Coping, Lesch-Nyhan Syndrome: Symptoms, Causes, Diagnosis, Treatment, Phelan-McDermid Syndrome: Symptoms, Causes, Diagnosis, Treatment, and Coping, Morquio Syndrome: Symptoms, Causes, Diagnosis, and Treatment, Thanatophoric Dysplasia: Symptoms, Causes, Diagnosis, and Treatment, Smith Lemli Opitz Syndrome: Symptoms, Causes, and Diagnosis, Cleidocranial Dysplasia: Symptoms, Causes, Diagnosis, and Treatment, Coffin-Lowry Syndrome: Symptoms, Causes, and Treatment, Coffin-Siris Syndrome: Symptoms, Causes, Diagnosis, Treatment, and Coping, Spinal Muscular Atrophy (SMA): Causes and Risk Factors, Crouzon Syndrome: Symptoms, Causes, Diagnosis, & Treatment, Hermansky-Pudlak Syndrome: Symptoms, Causes, Treatment, Rubinstein-Taybi Syndrome: Symptoms, Causes, Treatment, Myotonic Muscular Dystrophy: Symptoms, Causes, Diagnosis, Treatment, and Coping, MBD5 Genetic Disorders: Symptoms, Causes, Diagnosis, Treatment, Methylmalonic Acidemia: Symptoms, Causes, Diagnosis, and Treatment, Epidermolysis Bullosa: Symptoms, Causes, Diagnosis, and Treatment, MCAD: Symptoms, Causes, Diagnosis, and Treatment, HLA Typing: Purpose, Procedure, Interpretation, Benefits and Risks of Gene Therapy for Sickle Cell, DiGeorge Syndrome: Symptoms, Causes, Diagnosis, and Treatment, Klippel-Feil Syndrome: Symptoms, Causes, Diagnosis, and Treatment, Hyperekplexia: Symptoms, Causes, Diagnosis, and Treatment, Chediak-Higashi Syndrome: Symptoms, Causes, Diagnosis, and Treatment, Apert Syndrome: Symptoms, Causes, Diagnosis, and Treatment, Understanding Whole Exome Sequencing Genetic Tests, Hypoplasia Surgery: Preparation, Recovery, Long-Term Care, Familial Dysautonomia: Symptoms, Causes, Diagnosis, and Treatment, Muscular Dystrophy: Causes and Risk Factors, Muscular Dystrophy: Signs, Symptoms, and Complications, What You Need to Know About Gaucher Disease, Tay-Sachs Disease: Causes, Diagnosis, and Prevention, Wolfram Syndrome: Causes, Symptoms, Diagnosis, and Treatment, Muscular Dystrophy (MD): Overview and More, Symptoms, Causes, and Treatments of Angelman Syndrome, Williams Syndrome: Symptoms, Causes, Diagnosis, and Coping, An Overview of Inborn Errors of Metabolism, Familial Mediterranean Fever: Causes, Diagnosis, and Treatment, Hereditary Hemorrhagic Telangiectasia Overview, Genetic Testing: Uses, Side Effects, Procedure, Results, Caregiving for Someone With Muscular Dystrophy, Klinefelter Syndrome: Symptoms, Genetics, and Treatment, CHARGE Syndrome: Symptoms, Diagnosis, and Treatment, Mitochondrial Disease Symptoms and Treatment, Noonan Syndrome: Symptoms, Causes, Diagnosis, Treatment, Phenylketonuria (PKU) - Symptoms, Inheritance, and Treatment, The Symptoms, Causes and Treatment Options of Schwartz-Jampel Syndrome, Abetalipoproteinemia Symptoms and Treatment, Jarcho-Levin Syndrome Symptoms and Treatment, Cornelia de Lange Syndrome: Symptoms, Causes, Diagnosis, and Treatment, Learn the Symptoms and Treatments of Menkes Disease, Machado-Joseph Disease Symptoms and Treatment, Wolf-Hirschhorn Syndrome Symptoms and Diagnosis, Russell-Silver Syndrome Diagnosis and Treatment, What You Should Know About Jeune Syndrome, Patau Syndrome (Trisomy 13) Symptoms and Diagnosis, Waardenburg Syndrome Symptoms, Types, and Treatment, Symptoms and Treatment Options for Carpenter Syndrome, Newborn Screening for Genetic and Metabolic Disorders, Xeroderma Pigmentosum Disease Symptoms and Treatment, Laurence-Moon-Bardet-Biedl Syndrome Diagnosis, Kartagener Syndrome Symptoms and Treatment, Prader-Willi Syndrome Symptoms and Treatment, Neurofibromatosis Type 1 Symptoms and Treatment, Jackson-Weiss Syndrome Symptoms and Treatment, Canavan Disease Symptoms, Diagnosis and Treatment, PKU Diet: What to Eat For Better Management, PUBS Test: Uses, Side Effects, Procedure, Results.

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