Rare Diseases and Conditions

Our resource section provides information on various conditions to help educate carriers of the disease as well as caretakers.

Achondroplasia

Acromegaly

Addison’s Disease

Adenoid Cystic Carcinoma (ACC)

Adenosine Deaminase (ADA) Deficiency

ADNP Syndrome

Adrenoleukodystrophy (ALD)

Adult-Onset Still’s Disease (AOSD)

Aicardi Syndrome

Alagille Syndrome

Albinism

Alkaptonuria

Allan-Herndon-Dudley Syndrome (AHDS)

Alpha-1 Antitrypsin Deficiency (A1AD)

Alveolar Capillary Dysplasia

Amyloidosis

-Hereditary ATTR Amyloidosis

Amyotrophic Lateral Sclerosis (ALS)

Angelman Syndrome

Ankylosing Spondylitis (AS)

Antiphospholipid Syndrome

Apert Syndrome

Aplastic Anemia

Arginase Deficiency Disorder

Atypical Hemolytic-Uremic Syndrome

Autoimmune Autonomic Ganglionopathy (AAG)

Autoimmune Hepatitis

Avascular Necrosis

Babesiosis

Bardet-Biedl Syndrome

Batten Disease (NCL)

Beckwith-Wiedemann Syndrome (BWS)

Behçet’s Disease

Bell’s Palsy

Beta Thalassemia

-Beta Thalassemia Major

Bile Acid Synthesis Disorders (BASDs)

Bohring-Opitz Syndrome

BRCA-mutated Breast Cancer

Bronchiectasis

Bronchopulmonary Dysplasia (BPD)

Brown-Vialetto-Van Laere Syndrome (BVVL)

Canavan Disease

Cantú Syndrome

Carbamoyl Phosphate Synthetase 1 Deficiency

Carcinoid Syndrome

Carnitine Palmotoyltransferase II Deficiency

Castleman Disease

Central Precocious Puberty

Cerebral Palsy

Char Syndrome

Charcot-Marie-Tooth Disease (CMT)

CHARGE Syndrome

Chang Davidson Carlson Syndrome

Chiari Malformation

Choroidermia

Chromosome 15q Duplication

Chromosome 22 Ring

Chronic Inflammatory Demyelinating Polyneuropathy (CIDP)

Chronic Kidney Disease (CKD)

Chronic Lyme Disease

Chronic Lymphocytic Leukemia (CLL)

Chronic Myelogenous Leukemia (CML)

Chudley Rozdilsky Syndrome

Churg-Strauss Syndrome

Citrullinemia Type 1

CLOVES Syndrome

Coffin-Siris Syndrome

Complex Regional Pain Syndrome (CRPS)

Congenital Adrenal Hyperplasia (CAH)

Congenital Central Hypoventilation Syndrome (CCHS)

Congenital Diaphragmatic Hernia (CDH)

Congenital Disorder of Glycosylation Type 1a (CDG-1a)

Congenital Generalized Lipodystrophy (CGL)

Congenital Leptin Deficiency

Conradi-Hünermann Syndrome

Cornelia de Lange Syndrome (CdLS)

Costello Syndrome

Craniosynostosis

Cri du Chat Syndrome

Crouzon Syndrome

Cryopyrin-Associated Autoinflammatory Syndromes (CAPS)

-Neonatal-Onset Multisystem Inflammatory Disease (NOMID)

CSF Leak

Cushing Disease

Cutaneous T-cell Lymphomas (CTCLs)

Cyclic Vomiting Syndrome (CVS)

Cystic Fibrosis (CF)

Cystinosis

Dandy-Walker Malformation

Dercum Disease

Dermatomyositis

-Juvenile Dermatomyositis (JDM)

Devic’s Syndrome (Neuromyelitis Optica)

Diamond-Blackfan Anemia

Diastrophic Dysplasia

Dopamine Beta-Hydroxylase (DβH) Deficiency

Dravet Syndrome

Dup15q Syndrome

Dysautonomia

-Postural Orthostatic Tachycardia Syndrome (POTS)

Dystonia

Duchenne Muscular Dystrophy (DMD)

Dwarfism

Ehlers-Danlos Syndrome (EDS)

Eisenmenger Syndrome

Eosinophilic Esophagitis (EoE)

Eosinophilic Fasciitis

Epidermolysis Bullosa (EB)

Erdheim-Chester Disease (ECD)

Erythromelalgia

Fabry Disease

Factor XIII Deficiency

Familial Adenomatous Polyposis (FAP)

Familial Chylomicronemia Syndrome (FCS)

Familial Hypercholesterolemia (FH)

-Heterozygous Familial Hypercholesterolemia (HeFH)

Familial Isolated Hyperparathyroidism

Familial Mediterranean Fever

Familial Partial Lipodystrophy (FPL)

Fetal Alcohol Syndrome

Fibrinogen Deficiency

Focal Segmental Glomerulosclerosis (FSGS)

Food Protein-Induced Enterocolitis Syndrome (FPIES)

Fragile X Syndrome (FXS)

Friedreich Ataxia (FRDA)

Gastroparesis

Gastroschisis

Gaucher Disease

Glanzmann Thrombasthenia

Glaucoma

Glioblastoma

Glomerulonephritis

GLUT1 (DS) Deficiency Syndrome

Glutaric Acidemia Type I

GNE Myopathy

Gorlin Chaudhry Moss Syndrome (GCM)

Graft-versus-Host Disease (GvHD)

Granulomatosis with Polyangiitis (GPA)

Growth Hormone Insensitivity with Immunodeficiency

Guillain-Barré Syndrome (GBS)

Guttate Psoriasis

Helsmoortel-van der Aa Syndrome (HVDAS)

Hemicrania Continua

Hemiplegia

Hemiplegic Migraine

Hemochromatosis

Hemophilia A

Hemophilia B

Hepatic Porphyria

Hepatocellular Carcinoma

Hereditary Angioedema (HAE)

Hereditary Multiple Osteochondromas (HMO)

Heterotaxy Syndrome

Hirschsprung’s Disease

Homocystinuria

Huntington’s Disease

Hydrocephalus

Hyperkalemia

Hyperkalemic Periodic Paralysis (HyperKPP)

Hypereosinophilic Syndrome (HES)

Hypernatremia

Hyperphenylalaninemia

Hypokalemic Periodic Paralysis

Hypophosphatasia (HPP)

Hypopituitarism

Hypoplasminogenemia or Type 1 Plasminogen Deficiency

Hypoprothrombinemia

Ichthyosis

Idiopathic Hypersomnia

Idiopathic Thrombocytopenic Purpura (ITP)

Idiopathic Pulmonary Fibrosis (IPF)

Iron Overload Disorder

Ivemark Syndrome

Joubert Syndrome

Juvenile GM1 Gangliosidosis

Juvenile Idiopathic Arthritis (JIA)

Kabuki Syndrome

Kallmann Syndrome (KS)

Kidney Stones

Klippel-Feil Syndrome (KFS)

Krabbe Disease

L1 Syndrome

Lambert-Eaton Myasthenic Syndrome (LEMS)

Langerhans Cell Histiocytosis (LCH)

Laron Syndrome

Laurence-Moon Syndrome

Lennox-Gastaut Syndrome (LGS)

Leukodystrophy

Lipoprotein Lipase Deficiency (LPLD)

Lissencephaly

Long QT Syndrome

Lou Gehrig’s Disease

Lupus Nephritis

Lysosomal Acid Lipase Deficiency (LAL-D)

Mantle Cell Lymphoma

Marfan Syndrome

Marginal Zone Lymphoma

Mastocytosis

McCune Albright Syndrome (MAS)

Melkersson-Rosenthal Syndrome (MRS)

Membranoproliferative Glomerulonephritis (MPGN)

Membranous Nephropathy

Meniere’s Disease

Mesothelioma

Methylmalonic Acidemia with Homocystinuria

-Methylmalonic Acidemia With Homocystinuria, Type cblD

Microcephaly

Microscopic Polyangiitis (MPA)

Minimal Change Disease

Misophonia

Mitochondrial Diseases

Mixed Connective Tissue Disease (MCTD)

Moebius Syndrome

MPS I (Hurler Syndrome)

MPS II (Hunter Syndrome)

MPS III (Sanfilippo Syndrome)

MPS IV (Morquio Syndrome)

MPS VI (Maroteaux-Lamy Syndrome)

Multiple Endocrine Neoplasia Type 1 (MEN1)

Multiple Myeloma

Multiple System Atrophy (MSA)

Multiple Sclerosis (MS)

Myasthenia Gravis

-Refractory Generalized Myasthenia Gravis (gMG)

Mycosis Fungoides

Myelodysplastic Syndromes (MDS)

Myositis

Myotonic Dystrophy

N-Acetylglutamate Synthetase Deficiency (NAGS)

N-Glycanase (NGLY 1) Deficiency

Narcolepsy (and Cataplexy)

Nemaline Myopathy

Neonatal Respiratory Distress Syndrome (IRDS)

Neuroblastoma

Neurofibromatosis

Neurogenic Orthostatic Hypotension (nOH)

Niemann-Pick Disease

Non-24 Sleep-Wake Disorder

Nonalcoholic Steatohepatitis (NASH)

Occipital Neuralgia

Oculopharyngeal Muscular Dystrophy (OPMD)

Orotic Aciduria Type 1

Osteogenesis Imperfecta

Osteonecrosis

Osteosarcoma

Ovarian Cancer

Pantothenate Kinase-associated Neurodegeneration (PKAN)

Panuveitis

Parkes Weber Syndrome

Parkinson’s Disease

Paroxysmal Nocturnal Hemoglobinuria (PNH)

Pelizaeus Merzbacher Disease (PMD)

Pfeiffer Syndrome

Phenylketonuria (PKU)

Pitt-Hopkins Syndrome

Polycythemia Vera (PCV)

Polymyositis

Pompe Disease

Prader-Willi Syndrome

Primary Adrenal Insufficiency (AI)

Primary Biliary Cholangitis (PBC)

Primary Carnitine Deficiency

Primary Ciliary Dyskinesia (PCD)

Primary Hyperoxaluria Type 1 (PH1)

Primary Immune Deficiency Diseases

-Chronic Granulomatous Disease (CGD)

-Common Variable Immunodeficiency (CVID)

-Severe Combined Immunodeficiency (SCID)

Primary Myelofibrosis

Primary Pulmonary Hypertension (PPH)

Primary Sclerosing Cholangitis

Progeria

Progressive Familial Intrahepatic Cholestasis (PFIC)

Propionic Acidemia

Protein C Deficiency

Psoriatic Arthritis

Pulmonary Arterial Hypertension (PAH)

PURA Syndrome

Relapsing Polychondritis

Renal Cell Carcinoma

Rett Syndrome

Rheumatoid Arthritis (RA)

ROHHAD

RPE65-associated Leber Congenital Amaurosis (LCA)

Rubinstein-Taybi Syndrome (RTS)

Saethre Chotzen Syndrome (SCS)

Sarcoidosis

SATB2-associated Syndrome (SAS)

Schnitzler Syndrome

Schwartz-Jampel Syndrome

Scleroderma

Severe Acne

Severe Atopic Dermatitis

Short Bowel Syndrome (SBS)

Sickle Cell Anemia

Sjögren’s Syndrome

Smith-Magenis Syndrome (SMS)

Soft Tissue Sarcoma

Spinal Muscular Atrophy (SMA)

Spinocerebellar Ataxia (SCA)

Spondyleopiphyseal Dysplasia, Congenital (SEDC)

Stargardt Disease

Status Epilepticus

Stevens-Johnson Syndrome

Stickler Syndrome

Stiff Person Syndrome (SPS)

Sturge-Weber Syndrome

Tardive Dyskinesia (TD)

Tay-Sachs Disease

Tethered (Spinal) Cord Syndrome

Thoracic Outlet Syndrome (TOS)

Thrombocytopenia

Tuberous Sclerosis Complex

Tourette Syndrome

Transverse Myelitis (TM)

Trigeminal Neuralgia (TN)

Tyrosinemia (TYR)

Ulcerative Colitis

-Pediatric Ulcerative Colitis

Urea Cycle Disorders

VACTERL Association

Von Hippel-Lindau (VHL) Syndrome

Von Willebrand disease (vWD)

Waldenstrom Macroglobulinemia (WM)

West Syndrome (Infantile Spasms)

Wilson Disease

Wiskott-Aldrich Syndrome

X-linked Hypophosphatemia (XLH)

Zellweger Spectrum Syndromes