Aarskog Syndrome
Aase Syndrome
Aase-Smith Syndrome
Abetalipoproteinemia
Ablepharon-Macrostomia Syndrome (AMS)
Acatalasia/Acatalasemia
Achalasia-Alacrima Syndrome
Achalasia-Microcephaly Syndrome
Achard Syndrome
Achard Thiers Syndrome
Acheiropodia
Achondrogenesis
Achondroplasia
Achoo Syndrome
Ackerman Syndrome
Acrocephalopolysyndactylous Dysplasia
Acrocephalopolysyndactyly Syndromes
Acrocephalosyndactyly Syndromes
Acrofacial Dysostosis: An Overview
Acro-Fronto-Facio-Nasal Dysostosis Syndrome (Types I and II)
Acromesomelic Dysplasia
Acromicric Dysplasia
Acrorenal-Mandibular Syndrome
Acyl-Coa Dehydrogenase Deficiency Syndrome
Adactylia
Adams Nance Syndrome
Adams-Oliver Syndrome (AOS)
Addisonian Syndrome
Adducted Thumbs Syndrome
Adenosine Deaminase Deficiency
Adie Syndrome
Adrenogenital Syndrome
Adrenomyodystrophy
ADULT Syndrome
AEC Syndrome
Agnathia-Holoprosencephaly
Aicardi Syndrome
Aicardi-Goutieres Syndrome
Ainhum
Alacrima (Congenital)
Alagille Syndrome
Albinism
Albright-Butler Syndrome
Albright Hereditary Osteodystrophy
Alexander Syndrome
Alkaptonuria (AKU)
Allan-Herndon Syndrome
Allgrove Syndrome
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome
Alpers Disease
α1-Antitrypsin Deficiency (AATD)
Alpha-Ketoglutarate Dehydrogenase Deficiency
Alpha-Mannosidosis
Alport Syndrome
Alström Syndrome
Amelogenesis Imperfecta
Amelo-Onychohypohidrotic Syndrome
Amenorrhea-Galactorrhea Syndrome (AGS)
Amish Hair-Brain Syndrome
Amyoplasia Congenita
Amyotrophic Lateral Sclerosis
Andermann Syndrome
Andersen Cardiodysrhythmic Periodic Paralysis Syndrome
Angel-Shaped Phalangoepiphyseal Dysplasia (ASPED)
Aniridia
Ankyloblepharon Filiforme Adnatum and Cleft Palate
Antley-Bixler Syndrome
APECED Syndrome
Aplasia Cutis Congenita
Apolipoprotein C-II Deficiency
Argininemia
Arginosuccinic Acid Lyase Deficiency
Arkless-Graham Syndrome
Arnold-Chiari Syndrome
Arrhythmogenic Right Ventricular Dysplasia
Arthrogryposis (Arthrogryposis Multiplex Congenita)
Asymmetrical Short Stature Syndrome
ATR-X Syndrome
Atypical Mole Syndrome (AMS)
Aughton Syndrome
Babinski-Fröhlich Syndrome
Bader Syndrome
BADS
Ballard Syndrome
Ballinger-Wallace Syndrome
Bamforth-Lazarus Syndrome
Bangstad Syndrome
Banki Syndrome
Bannayan-Zonana Syndrome
Banti Syndrome
Baraitser-Winter Syndrome
Barber-Say Syndrome
Bardet-Biedl Syndrome
Barlow Syndrome
Barnes Syndrome
Barrow-Fitzsimmons Syndrome
Barth Syndrome
Bart-Pumphrey Syndrome
Bartter Syndrome
Basal Cell Carcinomas with Milia and Coarse, Sparse Hair Syndrome
Basan Syndrome
Basaran Yilmaz Syndrome
Bassoe Syndrome
Battaglia Syndrome
Bazex Syndrome
Bazopoulou-Kyrkanidou Syndrome
Beals Syndrome
Beardwell Syndrome
Beare-Stevenson Syndrome
Beckwith-Wiedemann Syndrome
Beemer-Langer Syndrome
Beemer Lethal Malformation Syndrome
Begeer Syndrome
Behçet Syndrome
Behr Syndrome
Behrens-Baumann-Dust Syndrome
Bellini-Chiumellorimoldi Syndrome
Bencze Syndrome
Berardinelli-Seip Syndrome.
Berdon Syndrome
Berk-Tabatznik Syndrome
Bernard-Soulier Syndrome
Bernhardt-Roth Syndrome
Best Disease
Bethlem Myopathy
Biemond Syndrome Type I
Biemond Syndrome Type II
Bietti Crystalline Corneoretinal Dystrophy
Bjornstad Syndrome
Blackfan-Diamond Syndrome
Bladder Exstrophy
Bland-White-Garland Syndrome
Blepharophimosis, Ptosis, and Epicanthus Inversus Syndrome
Blepharoptosis with Myopia and Ectopia Lentis
Bloom Syndrome
Blue Diaper Syndrome
Blue Rubber Bleb Nevus Syndrome
Book Syndrome
Boomerang Dysplasia
Börjeson-Forssman-Lehmann Syndrome
Borrone Dermato-Cardio-Skeletal Syndrome
Boucher-Neuhäuser Syndrome
Bouveret Syndrome
Bowen Syndrome
Bowen-Conradi Syndrome
Brachmann-De Lange Syndrome
Brachydactyly-Ectrodactyly Syndrome with Fibular Aplasia or Hypoplasia
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome
Branchial Myoclonus with Spastic Paraparesis and Cerebellar Ataxia Syndrome
Branchio-Oculo-Facial Syndrome
Branchio-Skeleto-Genital Syndrome
Brauer Syndrome
Brittle Hair and Mental Deficit Syndrome
Bronze Baby Syndrome
Brown-Vialetto-Van Laere Syndrome
Brugada Syndrome
Bruyn-Scheltens Syndrome
Budd-Chiari Syndrome
Burton Syndrome
Buschke-Ollendorff Syndrome
Wagr Syndrome
Brunner Winter Syndrome
C Syndrome
Cacchi-Ricci Disease
CADASIL
CAHMR Syndrome
Calderon Gonzalez-Cantu Syndrome
CAMFAK Syndrome
Camptodactyly Syndrome, Guadalajara Types I and II
Camurati-Engelmann Syndrome
Canavan Syndrome
Cantalamessa-Baldiniambrosi Syndrome
Cantu Syndrome
CAPOS Syndrome
Carbon Baby Syndrome
Cardiogenital Syndrome
Carey-Fineman-Ziter Syndrome
Carmi Syndrome
Carnevale-Canun-Mendoza Syndrome
Carnevale-Hernandez-Castillotorres Syndrome
Carnevale-Krajewska-Fischetto Syndrome
Carney Complex
Carnitine Deficiency
Carnitine Palmitoyltransferase Deficiency
Carnosinemia
Caroli Disease and Caroli Syndrome
Carpal Tunnel Syndrome
Cartilage-Hair Hypoplasia Syndrome
Cartwright-Nelson-Fryns Syndrome
Castleman Disease
Castro-Gago-Pombonovo Syndrome
Cat Cry Syndrome
Cat Eye Syndrome
Cataract-Alopecia-Sclerodactyly Syndrome
Cataract-Microcornea-Syndrome
Catlin Marks
Cavernous Sinus Syndrome
Cayler Syndrome
CCGE Syndrome
Cecato-De Lima-Pinheiro Syndrome
Celiac Disease
Cenani Syndactylism
Cennamo Gangemi Magli Syndrome
Central Core Disease
Cephaloskeletal Dysplasia
Cerebellar Hypoplasia
Cerebral Aneurysm-Cirrhosis Syndrome
Cerebro-Oculo-Skeleto-Renal Syndrome
Cerebro-Reno-Digital Syndrome
Cerebrocortical Degeneration of Infancy
Cerebrocostomandibular Syndrome
Ceroid Storage Disease
Ceruloplasmin Deficiency
Cervico-Oculo-Acoustic Syndrome
CHANDS
Charcot-Marie-Tooth Disease
CHARGE Syndrome
Charlie M Syndrome
Chauffard Syndrome
Chediak-Higashi Syndrome
Chemke-Oliver-Mallek Syndrome
Cherubism
CHILD Syndrome
Cholinesterase Deficiency
Chondrodysplasia Giant Cell Type
Chondrodysplasia Grebe Type
Chondrodysplasia-Pseudohermaphroditism Syndrome
Chondrodysplasia Punctata
Chorioretinal Dysplasia-Microcephaly-Mental Retardation Syndrome
Choroideremia
Christ-Siemens-Touraine Syndrome
Chronic Fatigue Syndrome
Chronic Granulomatous Disease.
Chudley Mental Retardation Syndrome
Chudley-Rozdilsky-Houston Syndrome
Citrullinemia
Cleft Hand and Absent Tibia Syndrome
Cleft-Limb-Heart Malformation Syndrome
Cleft Palate Lateral Synechiae Syndrome
Cleidocranial Dysplasia
Cleidorhizomelic Syndrome
Cloverleaf Skull
Clubfoot
COACH Syndrome
Coats Disease
co*ckayne Syndrome
CODAS Syndrome
Coffin-Lowry Syndrome
Coffin-Siris Syndrome
Cohen Syndrome
Cold Agglutinin Syndrome
Cold Hypersensitivity Syndrome
Cole-Carpenter Syndrome
Coleman-Randall Syndrome
Collins-Dennis-Clarke-Pope Syndrome
Collodion Baby
Colpocephaly
Complete Androgen Insensitivity Syndrome
Complex Disease/Deficiency (Overview)
Complex I Deficiency
Complex II Deficiency
Complex III Deficiency
Complex IV Deficiency
Complex V Deficiency
Cone-Rod Retinal Dystrophies
Congenital Afibrinogenemia
Congenital Atresia of Larynx
Congenital Disorders of Glycosylation
Congenital Dyserythropoietic Anemias
Congenital Factor VII Deficiency
Congenital Hypothyroidism
Congenital Muscular Dystrophy: An Overview
Congenital Myopathy with Fiber-Type Disproportion
Congenital Pancreatic Agenesis
Congenital Pseudarthrosis of Clavicle
Congenital Pulmonary Hypoplasia
Congenital Shortness of the Costocoracoid Ligament
Congenital Stridor
Congenital Varicella Syndrome
Conn Syndrome
Cooks Syndrome
Corneal Cerebellar Syndrome
Corneodermatoosseous Syndrome
Corpus Callosum Agenesis
Costello Syndrome
Cousin-Walbaum-Cegarra Syndrome
Cowchock Syndrome
Cowden Syndrome
Cramer-Niederdellmann Syndrome
Crane-Heise Syndrome
Craniodiaphyseal Dysplasia
Craniofrontonasal Dysplasia
Craniolacunia
Craniomicromelic Syndrome
Craniosynostosis
CREST Syndrome
Creutzfeldt-Jakob Disease
Crigler-Najjar Syndrome
Cumming Syndrome
Curatolo-Cilio Syndrome
Cutis Laxa
Cutis Marmorata Telangiectatica Congenita
Cystic Hygroma
Cystinosis
D-2-Hydroxyglutaric Aciduria
Da Silva Syndrome
Danbolt-Closs Syndrome
Dandy-Walker Malformation
Darier-White Disease
De Die Smulders Vles Fryns Syndrome
De Morsier Syndrome
De Sanctis Cacchione Syndrome
De Toni Debré Fanconi Syndrome
Deafness-Optic Atrophy Syndrome
Degos Syndrome
Dejerine-Sottas Syndrome
Delleman Oorthuys Syndrome
Dent Disease
Denys-Drash Syndrome
Dermatomyositis and Polymyositis
Desbuquois Syndrome
Devriendt Legius Fryns Syndrome
D-Glyceric Acidemia
Diaminopentanuria
Diastematomyelia
Diastrophic Dysplasia
Diencephalic Syndrome
Diferrante Syndrome
DiGeorge Syndrome
Digitotalar Dysmorphism
Dihydropyrimidinase Deficiency
Dihydropyrimidine Dehydrogenase Deficiency
Dionisi Vici Sabetta Gambarara Syndrome
Disaccharide Intolerance Type I
Disaccharide Intolerance Type II
Donnai-Barrow Syndrome
Donohue Syndrome
DOOR Syndrome
Drachtman Weinblatt Sitarz Syndrome
Du Pan Syndrome
Duane Retraction Syndrome
Dubin-Johnson Syndrome
Dubowitz Syndrome
duch*enne Muscular Dystrophy
Duker Weiss Siber Syndrome
Dyggve-Melchior-Clausen Syndrome
Dyke-Davidoff-Masson Syndrome
Dyskeratosis Congenita
Dysosteosclerosis
Dysplasia Epiphysealis Hemimelica
Eastman-Bixler Syndrome
Ebstein Syndrome
Ectodermal Dysplasia
Ectodermal Dysplasia, Ectrodactyly, and Macular Dystrophy (EEM) Syndrome
Ectrodactyly
Ectrodactyly, Ectodermal Dysplasia, and Clefting (EEC) Syndrome
Ehlers-Danlos Syndrome (EDS): An Overview
Ehlers-Danlos Syndrome (EDS)
Eisenmenger Reaction
Elejalde Syndrome
Ellis-Van Creveld Syndrome
Emery-Dreifuss Muscular Dystrophy (EDMD)
Encephalocele
Eosinophilic Endomyocardial Disease
Epidermal Nevus Syndrome
Epidermolysis Bullosa
Epstein Syndrome
Erb and Klumpke Palsy
Erdheim-Chester Disease (ECD)
Eronen Syndrome
Erythema Multiforme (EM)
Erythromelalgia.
Erythropoietic Protoporphyria
Essential Thrombocythemia
F Syndrome
Fabry Disease
Facio-Oculo-Acoustico-Renal (FOAR) Syndrome
Facio-Thoraco-Genital Syndrome
Fahr Syndrome
Familial Amyotrophic Dystonic Paraplegia
Familial Atrial Myxoma
Familial Benign Copper Deficiency
Familial Generalized Anhidrosis
Familial Hyperaldosteronism
Familial Hyperlysinemia
Familial Hypogonadotrophic Eunuchoidism
Familial Inverted Choreoathetosis
Familial Juvenile Nephronophthisis (NPH)
Familial Mediterranean Fever
Familial Nonchromaffin Paragangliomas
Familial Osteodysplasia
Familial Porencephaly
Familial Progressive Scleroderma
Fanconi Anemia
Fanconi-Bickel Syndrome (FBS)
Farber Uzman Syndrome
Faulk Epstein Jones Syndrome
Feigenbaum Bergeron Richardson Syndrome
Feingold Syndrome
Felty Syndrome
Femoral-Facial Syndrome
Femur-Fibula-Ulna Syndrome
Fenton Wilkinson Toselano Syndrome
Fetal Alcohol Syndrome (FAS)
Fetal Aminopterin Syndrome
Fetal Cocaine Syndrome
FG Syndrome
Fibrin Stabilizing Factor (Factor XIII) Deficiency
Fibrocystic Pulmonary Dysplasia
Fibrodysplasia Ossificans Progressiva
Fibromatoses
Floating-Harbor Syndrome (FHS)
Foix Alajouanine Syndrome
Folic Acid Deficiency
Forsius-Ericksson Syndrome
Fragile X Syndrome
Fraser Syndrome
Freeman-Sheldon Syndrome (FSS)
Friedreich Ataxia (FRDA)
Fronto-Metaphyseal Dysplasia of Gorlin (FMD)
Frydman Cohen Karmon Syndrome
Fryns Syndrome
Fucosidosis
Galactosemia
Galactosialidosis
Gangliosidosis (GM1) Type I
Gangliosidosis (GM2) Type II
Garcia-Lurie Syndrome
Gaucher Disease
Geleophysic Dysplasia
Generalized Arterial Calcification of Infancy
Genoa Syndrome
Geroderma Osteodysplastica Syndrome
Gerstmann-Sträussler Disease
Gianotti-Crosti Syndrome
Gilbert Syndrome
Gilles De La Tourette Syndrome
Gillespie Syndrome
Gitelman Syndrome
Glanzmann Thrombasthenia
Glucose-6-Phosphate Dehydrogenase Deficiency
Glucose Phosphate Isomerase Deficiency
Glutaric Acidemia Type I (GA-I)
Glutaric Acidemia Type II (GA-II)
Glycogen Storage Diseases (GSD): An Overview
Glycogen Storage Disease Type 0
Glycogen Storage Disease Type I (GSD I)
Glycogen Storage Disease Type II
Glycogen Storage Disease Type III (GSD III)
Glycogen Storage Disease Type IV (GSD IV)
Glycogen Storage Disease Type V (GSD V)
Glycogen Storage Disease Type VI (GSD VI)
Glycogen Storage Disease Type VII (GSD VII)
Glycogen Storage Disease Type VIII (GSD VIII)
Goldenhar Syndrome
Goldston Syndrome
Goltz Syndrome
Goodman Camptodactyly
Goodpasture Syndrome
Gordon-Holmes Syndrome
Gordon Hyperkalemia-Hypertension Syndrome
Gorham-Stout Disease
Gorlin-Chaudry-Moss Syndrome
Gorlin-Goltz Syndrome
Gottron Syndrome
Gradenigo Syndrome
Graham-Boyle-Troxell Syndrome
Grand-Kaine-Fulling Syndrome
Granddad Syndrome
Grant Syndrome
Graves Disease
Greig Cephalopolysyndactyly Syndrome
Griscelli Syndrome
Grisel Syndrome
Grix-Blankenship-Peterson Syndrome
Groenblad-Strandberg Syndrome
Groll-Hirschowitz Syndrome
Gsell-Erdheim Syndrome
Guizar-Vasquez-Luengas Syndrome
Gullner Syndrome
Gunn Syndrome
Hageman Factor (Factor XII) Deficiency.
Haim Munk Syndrome
Hajdu Cheney Syndrome
Hakim-Adams Syndrome
Hall Riggs Syndrome
Hallerman-Streiff Syndrome
Hallervorden-Spatz Disease
Haltia-Santavuori Syndrome
Hanot-Chauffard Syndrome
Happy Puppet Syndrome
Harboyan Syndrome
HARD Syndrome
Hardcastle Syndrome
Harlequin Syndrome
Hartnup Disease
HDR Syndrome
Hecht Syndrome
Hemochromatosis
Hemoglobin Disorders: Overview
Hemolytic Anemia, Congenital, with Emphysema and Cutis Laxa
Hemophagocytotic Lymphohistiocytosis (HLH)
Hemophilia A
Hemophilia B
Hennekam Syndrome
Hereditary Acromelalgia
Hereditary Desmoid Disease (HDD)
Hereditary Keratitis
Hereditary Motor Sensory Neuropathies (HMSN): Overview
Hereditary Neurocutaneous Angiomatoses: Overview
Hereditary Neurocutaneous Angioma
Hereditary Pancreatitis
Hereditary Sensory and Autonomic Neuropathies (HSAN): Overview
Hereditary Spherocytosis
Hereditary Stomatocytosis
Hereditary Telangiectasia
Hereditary Vitamin D-Resistant Rickets (HVDRR)
Hereditary Xerocytosis
Hermansky-Pudlak Syndrome (HPS)
HHH Syndrome
HHHH Syndrome
Hirschsprung Syndrome
Histidinemia
Histiocytosis
Holt-Oram Syndrome
hom*ocystinuria (HCU)
Horton Syndrome
Hughes Syndrome
Hunter Syndrome
Huntington Chorea (HC)
Hurler Syndrome
Hypereosinophilic Syndrome (HES)
Hyperlipoproteinemia: An Overview
Hyperoxaluria, Primary
Hyperprolinemia
Hypoglossia-Hypodactylia Syndrome
Hypomelanosis of Ito
Hypoparathyroidism
Hypophosphatasia
Hypoplasia of the Right Ventricle
Hypoplastic Left Heart Syndrome
ICE Syndrome
I-Cell Disease
Ichthyosis Vulgaris
Idiopathic Intracranial Hypertension
Idiopathic Thrombocytopenia Purpura
Imerslund Syndrome
Iminoglycinuria
Immotile Cilia Syndrome
Immunodeficiency Centromeric Instability and Facial Anomalies Syndrome
Inclusion Body Myopathy
Incontinentia Pigmenti
Infantile Pyloric Stenosis
Infantile Sialic Acid Storage Disease
Infantile-Onset Spinocerebellar Ataxia (IOSCA)
Infertile Male Syndrome
Intestinal Pseudoobstruction Caused by Neuronal Disease
Iridogoniodysgenesis Syndrome
Isaacs Mertens Syndrome
Ischiopatellar Dysplasia
Isotretinoin Embryopathy-Like Syndrome
Isovaleric Acidemia
Ivemark Syndrome
IVIC Syndrome
Jacobs Syndrome
Jacobsen Syndrome
Jaffe-Lichtenstein Syndrome
Jarcho-Levin Syndrome
Jeune Syndrome
Job Syndrome
Johanson-Blizzard Syndrome (JBS)
Johnson Munson Syndrome
Jones Syndrome
Joubert Syndrome
Juberg-Hayward Syndrome
Juberg-Marsidi Syndrome
Judge Misch Wright Syndrome
Jumping Frenchman of Maine Syndrome
Jung Wolff Back Stahl Syndrome
Juvenile Hyaline Fibromatosis
Juvenile Intestinal Polyposis
Juvenile Myoclonic Epilepsy (JME)
Juvenile Paralysis Agitans of Hunt
Juvenile Sulfatidosis Syndrome
Kabuki Syndrome
Kaler-Garrity-Stern Syndrome
Kallmann Syndrome
Kantaputra-Gorlin Syndrome
Kaplowitz-Bodurtha Syndrome
Kaposi Sarcoma
Kapur-Toriello Syndrome
Karandikar-Maria-Kamble Syndrome
Karsch-Neugebauer Syndrome
Kartagener Syndrome
Kasabach-Merritt Syndrome
Kashani-Strom-Utley Syndrome
Kasznica-Carlson-Coppedge Syndrome
Katsantoni-Papadakou-Lagoyanni Syndrome
Katz Syndrome
Kaufman Oculo-Cerebro-Facial Syndrome
Kaveggia Syndrome
Kawasaki Disease
Kawashima-Tsuji Syndrome
KBG Syndrome
Kearns-Sayre Syndrome
Kennedy Disease
Kennerknecht-Vogel Syndrome.
Kenny-Caffey Syndrome
Keratitis Ichthyosis Deafness (KID) Syndrome
Keratitis, Hereditary
Keratosis Palmaris et Plantaris: Overview
Keratosis Palmoplantaris with Esophageal Cancer
Kersey Syndrome
Ketoacidosis of Infancy
Keutel Syndrome
Khalifa-Graham Syndrome
Kikuchi-Fujimoto Disease
Kindler Syndrome
King-Denborough Syndrome
Kinky Hair Syndrome
Kinsbourne Syndrome
Kleine-Levin Hibernation Syndrome
Kleiner-Holmes Syndrome
Klinefelter Syndrome XXY/XYY
Klippel-Feil Syndrome
Klippel-Trenaunay Syndrome
Kniest Syndrome
Knobloch Syndrome
Köbberling-Dunnigan Syndrome
Kocher-Debré-SéMéLaigne Syndrome
Konigsmark Syndrome
Korula-Wilson-Salomon Syndrome
Kostmann Syndrome
Kosztolanyi Syndrome
Kousseff-Nichols Syndrome
Kousseff Syndrome
Kowarski Syndrome
Kozlowski-Brown-Hardwick Syndrome
Kozlowski-Celermajer Syndrome
Kozlowski-Ouvrier Syndrome
Kozlowski-Rafinski-Kucharska Syndrome
Kozlowski-Tsuruta-Taki Syndrome
Kozlowski-Warren-Fisher Syndrome
Krasnow-Qazi Syndrome
Krause-Kivlin Syndrome
Krause-Reese Syndrome
Krauss-Herman-Holmes Syndrome
Krieble-Bixler Syndrome
Kudo-Tamura-Fuse Syndrome
Kumar-Levick Syndrome
Kunze-Riehm Syndrome
Kurczynski-Casperson Syndrome
Kuster-Majewski-Hammerstein Syndrome
Kuzniecky Syndrome
Kwashiorkor
Kyrle Disease
l-2-Hydroxyglutaric Aciduria
Laband Syndrome
Lacrimo-Auriculo-Dento-Digital Syndrome (LADD Syndrome)
Lafora Syndrome or Disease
Lambert Syndrome
Landau-Kleffner Syndrome (LKS)
Landouzy-Dejerine Dystrophy
Laron Syndrome
Larsen Syndrome
Laryngo-Onycho-Cutaneous (LOC) Syndrome
Launois Syndrome
Laurence Moon Syndrome (LMS)
Leber Congenital Amaurosis (LCA)
Leber Hereditary Optic Neuropathy (LHON)
Legg-Calvé-Perthes Disease
Leigh Syndrome
Leiner Syndrome
Lemierre Syndrome
Lennox-Gastaut Syndrome
Lenz Syndrome
Lenz-Majewski Syndrome
LEOPARD Syndrome
Leri Pleonosteosis
Léri-Weill Syndrome
Lesch-Nyhan Syndrome
Letterer-Siwe Disease (LSD)
Leukocyte Adhesion Deficiency (LAD) Syndrome
Leukodystrophies: Overview
Leukonychia and Other Nail Discoloration: Overview
Leukonychia Totalis
Liddle Syndrome
Li-Fraumeni Syndrome (LFS)
Lightwood Syndrome
Limb Deficiency-Heart Malformation Syndrome
Limb-Girdle Muscular Dystrophy (LGMD)
Lipofuscinoses, Neuronal Ceroid: Overview
Lissencephaly
Loken Senior Syndrome
Long QT Syndrome (LQTS)
Louis-Bar Syndrome
Lowe Syndrome
Lown-Ganong-Levine Syndrome
Lowry-Wood Syndrome
Lucey-Driscoll Syndrome
Lujan Fryns Syndrome
Lutembacher Syndrome
Lyell Syndrome
Lyme Disease
Lymphedema
Lymphedema Hypoparathyroidism Syndrome
Lymphedema with Distichiasis
Lymphoreticular Syndrome
Lynch Syndrome
Lysinuric Protein Intolerance
Machado-Joseph Disease
Macrocephaly, Hypertelorism, Short Limbs, and Hearing Loss Syndrome
Maffucci Syndrome
Majocchi Disease
Mallory-Weiss Syndrome
Malpuech Syndrome
Mannosidosis
Maple Syrup Urine Disease (MSUD)
Marden-Walker Syndrome
Marfan Syndrome
Marinesco-Sjögren Syndrome
Maroteaux Cohen-Solal Bonaventure Syndrome
Maroteaux-Lamy Syndrome
Marshall Syndrome
Marshall-Smith Syndrome
MASA Syndrome
Mastocytosis
Mauriac Syndrome
Mayer-Von Rokitansky-Küster-Hauser Syndrome
McCune-Albright Syndrome
McKusick-Kaufman Syndrome
McPherson-Clemens Syndrome
Meckel-Gruber Syndrome (MKS)
Median Cleft Facial Syndrome
Meier-Gorlin Syndrome
Meigs Syndrome (Including Pseudo-Meigs Syndrome)
Melanoma-Astrocytoma Syndrome
MELAS Syndrome
Melkersson-Rosenthal Syndrome
Melnick-Fraser Syndrome
Melnick-Needles Syndrome (MNS)
Meltzer Syndrome
Menkes Syndrome
Meretoja Syndrome.
Merlob Syndrome
MERRF Syndrome
Mesomelia-Synostoses Syndrome
Metachromatic Leukodystrophy
Metaphyseal Chondrodysplasia, Jansen Type
Metaphyseal Chondrodysplasia, McKusick Type
Metaphyseal Chondrodysplasia, Schmid Type
Methemoglobinemia (Congenital)
Methionine Malabsorption Syndrome
Methylmalonic Acidemia (MMA)
Meyer-Betz Disease
Michels Syndrome
Microgastria-Limb Reduction Defects Association
Microvillous Inclusion Syndrome
MIDAS Syndrome
Miller-Dieker Lissencephaly Syndrome
Miller Disease
Miller Fisher Syndrome
Miller Syndrome
Milroy Disease
Milton Disease
Minicore Disease with External Ophthalmoplegia
Mitochondrial Acetoacetyl-CoA Thiolase (ACAT) Deficiency
Mitochondrial Disease
Moebius Syndrome
Mohr Syndrome
Mohr-Tranebjaerg Syndrome
Mollica Pavone Antener Syndrome
Moloney Syndrome
Molybdenum Cofactor Deficiency
MOMO Syndrome
Monilethrix
Moore-Federman Syndrome
Moore-Smith-Weaver Syndrome
Morgagni-Stewart-Morel Syndrome
Morning Glory Syndrome
Morquio Syndrome
Mount Reback Syndrome
Mowat-Wilson Syndrome
Moyamoya Syndrome
Moynahan Alopecia Syndrome
Muckle-Wells Syndrome
Mucolipidosis
Mucopolysaccharidosis (MPS)
Mucoviscidosis
Muir-Torre Syndrome (MTS)
Mulibrey Nanism Syndrome
Muller Barth Menger Syndrome
Multicore Myopathy
Multiple Carboxylase Deficiency
Multiple Endocrine Neoplasia (MEN)
Multiple Epiphyseal Dysplasia (MED)
Multiple Synostoses Syndrome
MURCS Association
Myasthenia Gravis
Myoadenylate Deaminase Deficiency
Myocerebellar Disorder
Myopathy, Distal, Welander Type
Myotonia Congenita
Myotonic Dystrophy
Myotubular Myopathy
Myhre Syndrome
N Syndrome
N-Acetylglutamate Synthetase Deficiency
Nager Syndrome
Nail-Patella Syndrome
Nance-Horan Syndrome
NARP Syndrome
Nélaton Syndrome
Nemaline Rod Myopathy
Neonatal Lupus Erythematosus
Netherton Syndrome
Neurocutaneous Melanosis
Neurofibromatosis Generalisata
Neuronal Ceroid Lipofuscinoses
Nezelof Syndrome
Niemann-Pick Disease
Nonketotic Hyperglycinemia
Noonan Syndrome
Norrie Disease
Nyssen-Van Bogaert Syndrome
Oculocerebral with Hypopigmentation Syndrome
Oculodentodigital Syndrome
Oculogastrointestinal Muscular Dystrophy
Odontotrichomelic Syndrome
Ogilvie Syndrome
Omenn Syndrome
Omodysplasia
Ondine Syndrome
Opitz-Frias Syndrome
Oral-Facial-Digital Syndrome (OFD)
Ornithine Carbamoyltransferase Deficiency (OTCD)
Ornithine Delta-Aminotransferase Deficiency
Orotic Aciduria
Osgood-Schlatter Disease
Osteogenesis Imperfecta
Osteopetrosis
Otopalatodigital (OPD) Syndrome Type I
Otopalatodigital (OPD) Syndrome Type II
Otospondylomegaepiphyseal Dysplasia
Pachydermoperiostosis (PDP)
PAGOD Syndrome
Pallister-Hall Syndrome
Papillon-Lefèvre Syndrome
Parana Hard Skin Syndrome
Paroxysmal Cold Hemoglobinuria
Paroxysmal Nocturnal Hemolytic (PNH) Anemia
Parry-Romberg Syndrome
Patterson Pseudo-Leprechaunism Syndrome
Pearson Syndrome
Pectus Excavatum
Pelizaeus-Merzbacher Syndrome
Pemphigoid
Pemphigus
Pena-Shokeir Syndrome Type I
Pena-Shokeir Syndrome Type II
Pendred Syndrome
Penta X Syndrome
Pentalogy of Cantrell
Pentosuria
PEP Syndrome
Periodic Paralysis (PP)
Perlman Syndrome
Pernicious Anemia
Perrault Syndrome
Pettigrew Syndrome
Peutz-Jeghers Syndrome
PHACE Syndrome
Phenylketonuria
Pheochromocytoma
Phosphoenolpyruvate Carboxykinase Deficiency
Phosphoglycerate Kinase Deficiency
Phytosterolemia
Pickwickian Syndrome
Pierre Robin Syndrome
Pilomatrixoma
Pitt-Rogers-Danks Syndrome
Pitt-Williams Brachydactyly Syndrome
Pituitary Dwarfism
Plott Syndrome
Poland Syndrome
Poland-Moebius Syndrome
POLIP Syndrome
Pollitt Syndrome
Polyarteritis Nodosa (PAN)
Polycystic Kidney Disease (PKD)
Polycystic Liver Disease
Polyostotic Osteolytic Dysplasia
Porokeratosis of Mibelli
Porphyrias
Potter Syndrome
Powell Venencie Gordon Syndrome
Prader-Labhart-Willi Syndrome
Precocious Puberty
Primary Immunodeficiencies
Primary Pulmonary Hypertension (PPH)
Primary Torsion Dystonia
Progeria Syndrome
Progressive Bulbar Palsy of Childhood
Progressive Familial Intrahepatic Cholestasis (PFIC)
Prolidase Deficiency
Propionic Acidemia
Protein C Deficiency
Protein S Deficiency
Proteus Syndrome
Proximal Muscular Dystrophy
Prune Belly Syndrome
Psaume Syndrome
Pseudo-Achondroplastic Dysplasia
Pseudohypoparathyroidism
Pterygium Syndrome
Pulmonary Alveolar Microlithiasis
Pulmonary Alveolar Proteinosis
Pulmonary Arteriovenous Malformation
Pulmonary Hypoplasia
Purine Nucleoside Phosphorylase Deficiency
Purtscher Disease
Pyknodysostosis
Pyle Disease
Pyruvate Carboxylase Deficiency
Pyruvate Dehydrogenase Complex Deficiency
Pyruvate Kinase Deficiency (PKD)
Qazi Markouizos Syndrome
(De) Quervain Thyroiditis
Quincke Edema
Rabson-Mendenhall Syndrome
Radial Aplasia Syndrome
Radio-Ulnar Synostosis
Ramban-Hasharon Syndrome
Ramon Syndrome
Ramsay Hunt Syndrome Type I
Ramsay Hunt Syndrome Type II
Raynaud Syndrome
REAR Syndrome
Reardon Wilson Cavanagh Syndrome
Recombinant Chromosome 8 Syndrome
Refetoff Syndrome
Refsum Syndrome
Reifenstein Syndrome
Renal-Coloboma Syndrome
Renal Tubular Dysgenesis
Reticular Dysgenesia
Retinoblastoma
Retino-Hepato-Endocrinologic Syndrome
Rett Syndrome
Reye Syndrome
Reynolds Neri Hermann Syndrome
Rhizomelic Chondrodysplasia Punctata Type I
Richards Rundle Syndrome
Riley-Smith Syndrome
Ritscher-Schinzel Syndrome
Roberts Syndrome.
Robinow Syndrome
Rogers Syndrome
Rolland-Desbuquois Syndrome
Rombo Syndrome
Rosenberg-Chutorian Syndrome
Rosenthal-Kloepfer Syndrome
Rosewater Syndrome
Rosseli-Gulienetti Syndrome
Rothmann Makai Syndrome
Rothmund-Thomson Syndrome
Rotor Syndrome
Roussy-Levy Syndrome
Rubinstein-Taybi Syndrome
Rud Syndrome
Rukavina Type Amyloid Polyneuropathy
Rundles-Falls Syndrome
Russell Weaver Bull Syndrome
Russell-Silver Syndrome
Rutledge Lethal Multiple Congenital Anomaly Syndrome
Ruvalcaba Syndrome
Sabin-Feldman Syndrome
Salt-Depletion Syndrome
Sandifer Syndrome
Sandrow Syndrome
Sanjad-Sakati Syndrome
Sarcoidosis
Sarcosinemia
SC Phocomelia Syndrome
Schilder Syndrome
Schindler Disease
Schinzel Syndrome
Schinzel-Giedion Syndrome
Schinzel Acrocallosal Syndrome
Scholz-Greenfield Syndrome
Schönlein-Henoch Purpura Syndrome
Schopf-Schulz-Passarge Syndrome
Schwartz-Jampel Syndrome
SCIDS (Severe Combined Immunodeficient Syndrome)
Scimitar Syndrome
Sclerema Neonatorum
Scurvy Syndrome
Sea-Blue Histiocytosis Syndrome
Seckel Syndrome
Segawa Syndrome
Seitelberger Syndrome
Senear-Usher Syndrome
Sengers Syndrome
Sensenbrenner Syndrome
Serpentine Fibula-Polycystic Kidney Syndrome
Setleis Syndrome
Sheehan Syndrome
Shokeir Syndrome
Shone Complex or Syndrome
Short-Rib Polysyndactyly Syndrome
SHORT Syndrome
Shwachman Syndrome
Shy-Drager Syndrome
SIADH
Sialidosis
Sick Sinus Syndrome
Sickle Cell Anemia
Simmonds Syndrome
Simpson-Golabi-Behmel Syndrome
Singleton-Merten Syndrome
Sirenomelia
Situs Inversus
Sjögren Larsson Syndrome (SLS)
Sjögren Syndrome
Smith-Lemli-Opitz Syndrome
Smith-Magenis Syndrome
Sneddon Syndrome
Sotos Syndrome
Spastic Diplegia of Infancy
Spina Bifida
Spinal Muscular Atrophy Syndrome
Spinocerebellar Ataxia (SCA): An Overview
Sponastrime Dysplasia
Spondylocarpotarsal Synostosis Syndrome
Spondylo-Enchondro-Dysplasia
Spondyloepimetaphyseal Dysplasia
Stargardt Syndrome
Stein-Leventhal Syndrome
Stickler Syndrome
Stiff Baby Syndrome
Stiff Heart Syndrome
Stimmler Syndrome
Streeter Anomaly
Sturge-Weber Syndrome
Succinyl-CoA:3-Ketoacid CoA-Transferase Deficiency
Sudden Infant Death Syndrome (SIDS)
Sulfocysteinuria
Summerskill Syndrome
Superior Mesenteric Artery Syndrome (SMAS)
Sweet Syndrome
Swyer Syndrome
Swyer-James-MacLeod Syndrome
Sylvian Syndrome
Syringomyelia
Systemic Lupus Erythematosus (SLE)
Takayasu Disease
Tangier Disease
TAR Syndrome
Tel Hashomer Camptodactyly Syndrome
Temtamy Syndrome
Tethered Spinal Cord Syndrome
Tetralogy of Fallot
Thalassemia
Thanatophoric Dwarfism
Thanos-Stewart-Zonana Syndrome
Three M Syndrome
Thrombotic Thrombocytopenic Purpura (TTP)
Thyrotoxic Periodic Paralysis
Tooth and Nail Syndrome
TORCH Syndrome
Toriello-Carey Syndrome
Treacher Collins Syndrome
Triad Anomaly
Tricho-Dento-Osseous (TDO) Syndrome
Tricho-Oculo-Dermo-Vertebral Syndrome (TODV Syndrome)
Tricho-Rhino-Phalangeal Dysplasia Type I
Tricho-Rhino-Phalangeal Dysplasia Type II
Tricho-Rhino-Phalangeal Dysplasia Type III
Triglyceride Storage Disease (TSD)
Trimethylaminuria Syndrome
Trisomy 3p
Trisomy 4p
Trisomy 6q
Trisomy 8
Trisomy 9
Trisomy 11q
Trisomy 13
Trisomy 18
Trisomy 21
Truncus Arteriosus Communis
Tuberous Sclerosis
Turcot Syndrome
Tyrosinemia
Uhl Anomaly
Ullrich Disease
Ullrich-Feichtiger Syndrome
Ullrich-Turner Syndrome
Upshaw-Schulman Syndrome
Urbach-Wiethe Syndrome
Uridine Diphosphate Galactose Epimerase Deficiency
Urticaria Pigmentosa
Usher Syndrome
VACTERL Association with Hydrocephalus
VA(C)TER(L) Association
Van der Woude Syndrome
Van Maldergem Wetzburger Verloes Syndrome
Vaquez-Osler Disease.
Varadi-Papp Syndrome
Vasquez Hurst Sotos Syndrome
Velocardiofacial Syndrome
Velo-Facio-Skeletal Syndrome
Verner-Morrison Syndrome
Vogt-Koyanagi-Harada Syndrome
Vohwinkel Syndrome
Von Gierke Disease
Von Hippel Lindau Syndrome
von Willebrand-Jüergens Disease
Waardenburg Syndrome
Wadia-Swami Syndrome
Wagner Syndrome
WAGR Syndrome
Waterhouse-Friderichsen Syndrome
Watson Syndrome
Weaver Syndrome
Weber-Christian Disease
Weill-Marchesani Syndrome
Weismann-Netter-Stuhl Syndrome
Wermer Syndrome
Werner Syndrome
West Syndrome
Weyers Syndrome II
Whipple Disease
Wiedemann-Rautenstrauch Syndrome
Williams Syndrome
Williams-Campbell Syndrome
Wilson Disease
Wilson-Turner Syndrome
Wiskott-Aldrich Syndrome
Wohlfart-Kugelberg-Welander Syndrome
Wolff-Parkinson-White (WPW) Syndrome
Wolf-Hirschhorn Syndrome
Wolfram Syndrome
Wyburn Mason Syndrome
Xanthinuria
Xeroderma Pigmentosum (XP)
Xeroderma, Talipes, and Enamel Defect Syndrome
X-Linked Adrenoleukodystrophy (XLA)
X-Linked Hypophosphatemia (XLH)
X-Linked Lymphoproliferative (XLP) Syndrome
Yellow Nail Syndrome
Young Syndrome
Yunis-Varon Syndrome
Zellweger Syndrome
Zunich Neuroectodermal Syndrome.
