Rare Diseases and Conditions

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

# | A | B | C | D | E | F | G | H | I | J | K | L | M | N | O | P | Q | R | S | T | U | V | W | X | Y | Z

#

15q24 Microdeletion Syndrome

2-Methyl-3-Hydroxybutyric Aciduria

22q13 Deletion Syndrome

3-methylcrotonyl-CoA carboxylase deficiency

A

Aagenaes syndrome

Aarskog Syndrome

Aarskog-Scott Syndrome

Abderhalden-Kaufmann-Lignac syndrome

Abdominal chemodectomas with cutaneous angiolipomas

Abdominal cystic lymphangioma

Abdominal obesity metabolic syndrome

Aberrant subclavian artery

Abruzzo Erickson syndrome

Absence of Gluteal muscle

Absence of septum pellucidum

Absence of tibia with polydactyly

Absent duct of Santorini

Absent patella

Abuse dwarfism syndrome

Acalvaria

Acanthamoeba infection

Acanthocheilonemiasis

Acanthosis nigricans

Acardia

Acatalasemia

Accessory deep peroneal nerve

Accessory pancreas

Accutane embryopathy

Aceruloplasminemia

Acetyl-carnitine deficiency

Acetyl-coa acetyltransferase 2 deficiency

Achalasia

Achalasia microcephaly

Achard-Thiers syndrome

Achondroplasia

Achondrogenesis Type 1B

Achondroplasia and Swiss type agammaglobulinemia

Achromatopsia 3

Acid Ceramidase Deficiency

Acid Sphingomyelinase Deficiency

Acinic cell carcinoma

Acitretin embryopathy

Ackerman syndrome

Acoustic Neuroma

Acquired agranulocytosis

Acquired amegakaryocytic thrombocytopenia

Acquired Generalized Lipodystrophy (AGL)

Acquired ichthyosis

Acral dysostosis dyserythropoiesis

Acral lentiginous melanoma

Acro Dermato Ungual Lacrimal Tooth Syndrome

Acromegaly

Acro-pectoro-renal field defect

Activated PI3K-Delta Syndrome

Acute Flaccid Myelitis (AFM)

Acute Lymphoblastic Leukemia

Acute Myelogenous Leukemia (AML)

Acute Promyelocytic Leukemia (APL)

Acute Respiratory Distress Syndrome (ARDS)

Addison’s Disease

Adenocarcinoma of the Lung

Adenoid Cystic Carcinoma (ACC)

Adenosine Deaminase (ADA) Deficiency

ADNP Syndrome

Adrenocortical Carcinoma

Adult Growth Hormone Deficiency

Adult-Onset Still’s Disease (AOSD)

Adult Polyglucosan Body Disease (APBD)

ALK Positive Lung Cancer

Alkaptonuria

Allan-Herndon-Dudley Syndrome (AHDS)

Alopecia Areata

Alpers Syndrome

Alpha-1 Antitrypsin Deficiency (A1AD)

Alternating Hemiplegia of Childhood

Alveolar Capillary Dysplasia

Alzheimer’s Disease

Amniotic Band Syndrome

Amyloidosis

-Hereditary ATTR Amyloidosis

Amyotrophic Lateral Sclerosis (ALS)

Anal Cancer

Anaplasmosis

Anaplastic Astrocytoma

Anaplastic Large Cell Lymphoma (ALCL)

– Systemic Anaplastic Large Cell Lymphoma (ALCL)

Anencephaly

Angelman Syndrome

Angiosarcoma of the Scalp

Aniridia

Ankylosing Spondylitis (AS)

Antiphospholipid Syndrome

Apert Syndrome

Aplastic Anemia

Arginase Deficiency Disorder

Aromatic L-Amino Acid Decarboxylase (AADC) Deficiency

Arthrogryposis Multiplex Congenita (AMC)

Ataxia-telangiectasia

Atrial Fibrillation (AF)

Attention Deficit Hyperactivity Disorder (ADHD)

Atypical Hemolytic-Uremic Syndrome

Atypical Teratoid Rhabdoid Tumor (AT/RT)

Auditory Neuropathy Spectrum Disorder (ANSD)

Autism with Port-Wine Stain

Autoimmune Autonomic Ganglionopathy (AAG)

Autoimmune Hepatitis

Autoimmune Hemolytic Anemia

Autoimmune Peripheral Neuropathy

Autoimmune Polyglandular Syndrome Type 1 (APS1)

Autoimmune Polyglandular Syndrome Type 2 (APS2)

Autoimmune Polyglandular Syndrome Type 3 (APS3)

Autoimmune Pulmonary Alveolar Proteinosis (aPAP)

Autoinflammatory Diseases

Avascular Necrosis

Axenfeld-Rieger Syndrome

B

Babesiosis

Bacterial Meningitis

Bacterial Meningococcal Disease

Bannayan-Riley-Ruvalcaba Syndrome

Bardet-Biedl Syndrome

Barth Syndrome

Basal Cell Carcinoma (BCC)

Batten Disease (NCL)

Becker Muscular Dystrophy

Beckwith-Wiedemann Syndrome (BWS)

Behçet’s Disease

Bell’s Palsy

Benign Congenital Hypotonia (BCH)

Benign Rolandic Epilepsy (BRE)

Bernard-Soulier Syndrome (BSS)

Bietti’s Crystalline Dystrophy

Bile Acid Synthesis Disorders (BASDs)

Bile Duct Cancer

Biliary Atresia

Biliary Tract Cancer

Birt-Hogg-Dubé Syndrome (BHD)

Blastic Plasmacytoid Dendritic Cell Neoplasm (BPDCN)

Blepharospasm

Bohring-Opitz Syndrome

Bone Cancer

Brain/Spinal Cord Cancers in Adults

Brain/Spinal Cord Cancers in Children

BRCA-mutated Breast Cancer

Breast Cancer

Bronchiectasis

Bronchiolitis Obliterans Syndrome

Bronchopulmonary Dysplasia (BPD)

Brown-Vialetto-Van Laere Syndrome (BVVL)

Brugada Syndrome

Buerger’s Disease

Burkitt Lymphoma

C

C3 Glomerulopathy

Calciphylaxis

Cantú Syndrome

Carbamoyl Phosphate Synthetase 1 Deficiency

Carcinoid Syndrome

Carnitine Palmotoyltransferase II Deficiency

Caroli Disease

Carpenter Syndrome

CASQ2 Related Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT)

Castleman Disease

Cauda Equina Syndrome (CES)

Caudal Regression Syndrome

CDKL5

Central Precocious Puberty

Centronuclear Myopathy

Cerebral Palsy

Cerebral Venous Sinus Thrombosis (CVST)

Charcot-Marie-Tooth Disease (CMT)

CHARGE Syndrome

Chang Davidson Carlson Syndrome

Chiari Malformation

Chikungunya Virus

Childhood-Onset Schizophrenia

Chromosome 5q Duplication

Chromosome 15q Duplication

Chromosome 22 Ring

Chronic Active Epstein-Barr Virus (CAEBV)

Chronic Granulomatous Disease (CGD)

Chronic Idiopathic Urticaria (CIU)

Chronic Inflammatory Demyelinating Polyneuropathy (CIDP)

Chronic Kidney Disease (CKD)

Chronic Lyme Disease

Chronic Lymphocytic Leukemia (CLL)

Chronic Myelogenous Leukemia (CML)

Chronic Myelomonocytic Leukemia (CMML)

Chronic Pancreatitis

Chronic Recurrent Multifocal Osteomyelitis

Chronic Traumatic Encephalopathy (CTE)

Chronic Urticaria

Chudley Rozdilsky Syndrome

Churg-Strauss Syndrome

Citrullinemia Type 1

Cleidocranial Dysostosis

CLOVES Syndrome

Coats Disease

Coffin-Siris Syndrome

Cogan Syndrome

Cold Agglutinin Disease (CAD)

Colorectal Cancer

Common Variable Immunodeficiency (CVID)

Complement Component Deficiencies

Complete DiGeorge Syndrome

Complex Regional Pain Syndrome (CRPS)

Cone Dystrophy

Congenital Adrenal Hyperplasia (CAH)

Congenital Central Hypoventilation Syndrome (CCHS)

Congenital Contractural Arachnodactyly (CCA) Syndrome

Congenital Diaphragmatic Hernia (CDH)

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

Congenital Dyserythropoietic Anemia (CDA)

Congenital Generalized Lipodystrophy (CGL)

Congenital Heart Block (CHB)

Congenital Hyperinsulinism

Congenital Leptin Deficiency

Congenital Muscular Dystrophy (CMD)

Congenital Myasthenic Syndromes (CMS)

Congenital Nephrotic Syndrome (CNS)

Congenital Nystagmus

Conradi-Hünermann Syndrome

Cornelia de Lange Syndrome (CdLS)

Corticobasal Degeneration

Costello Syndrome

Cranioacrofacial Syndrome

Craniosynostosis

Creatine Transporter Deficiency (CTD)

Cri du Chat Syndrome

Crohn’s Disease

Crouzon Syndrome

Cryopyrin-Associated Autoinflammatory Syndromes (CAPS)

-Familial Cold Autoinflammatory Syndrome (FCAS)

-Muckle-Wells Syndrome (MWS)

-Neonatal-Onset Multisystem Inflammatory Disease (NOMID)

Cryptococcosis

CSF Leak

Cushing Disease

Cutaneous Squamous Cell Carcinoma (cSCC)

Cutaneous T-cell Lymphomas (CTCLs)

Cyclic Vomiting Syndrome (CVS)

Cyclin-Dependent Kinase-Like 5 (CDKL5)

Cytomegalovirus (CMV)

F

Fabry Disease

Facioscapulohumeral Muscular Dystrophy (FSHD)

Factor VII Deficiency

Factor XIII Deficiency

Familial Adenomatous Polyposis (FAP)

Familial Chylomicronemia Syndrome (FCS)

Familial Hypercholesterolemia (FH)

-Heterozygous Familial Hypercholesterolemia (HeFH)

-Homozygous Familial Hypercholesterolemia (HoFH)

Familial Isolated Hyperparathyroidism

Familial Mediterranean Fever

Familial Partial Lipodystrophy (FPL)

Fanconi Anemia

Farber’s Disease

Fatal Familial Insomnia

Fatty Oxidation Disorder

Felty Syndrome

Fetal Alcohol Syndrome

Fibrinogen Deficiency

Fibrodysplasia Ossificans Progressiva (FOP)

Fibrolamellar Hepatocellular Carcinoma

Fibromyalgia

Fibular Hemimelia

Focal Segmental Glomerulosclerosis (FSGS)

Follicular Lymphoma

Food Protein-Induced Enterocolitis Syndrome (FPIES)

Foreign Accent Syndrome (FAS)

Fragile X Syndrome (FXS)

Friedreich Ataxia (FRDA)

Fuchs Endothelial Corneal Dystrophy

Fucosidosis

Functional Neurologic Disorder

G

Galactosemia

GAMT Deficiency

Gastroesophageal Junction Carcinoma

Gastrointestinal Stromal Tumors (GISTs)

Gastroparesis

Gastroschisis

Gaucher Disease

Generalized Arterial Calcification of Infancy (GACI)

Gestational Trophoblastic Disease (GTD)

Giant Axonal Neuropathy

Giant Cell Arteritis (GCA)

Gigantism

Glanzmann’s Thrombasthenia

GLUT1 (DS) Deficiency Syndrome

Glutaric Acidemia Type I

Glycogen Storage Disease Type 1

– Glycogen Storage Disease Type 1a

– Glycogen Storage Disease Type 1b

GM1 Gangliosidosis

GNAO1 Mutation

GNE Myopathy

Goldmann-Favre Syndrome (GFS)

Gorham-Stout Disease (GSD)

Gorlin Chaudhry Moss Syndrome (GCM)

Gorlin Syndrome

Graft-versus-Host Disease (GvHD)

Granulomatosis with Polyangiitis (GPA)

Graves’ Disease

GRIN Disorders

Growth Hormone Insensitivity with Immunodeficiency

Guillain-Barré Syndrome (GBS)

Guttate Psoriasis

H

Hairy Cell Leukemia

Hansen’s Disease (Leprosy)

Hantavirus Pulmonary Syndrome (HPS)

Heart Disease

Helsmoortel-van der Aa Syndrome (HVDAS)

Hemophagocytic lymphohistiocytosis (HLH)

Hemophilia

-Hemophilia A

-Hemophilia B

Hepatic Encephalopathy

Hepatic Porphyria

Hepatocellular Carcinoma

Hepatorenal Syndrome (HRS)

Hereditary Angioedema (HAE)

Hereditary Hemorrhagic Telangiectasia (HHT)

Hereditary Multiple Osteochondromas (HMO)

Hereditary Sensory and Autonomic Neuropathy Type 1E (HSAN1E)

Hereditary Spastic Paraparesis (HSP)

Hermansky-Pudlak Syndrome (HPS)

Heterotaxy Syndrome

Hirschsprung’s Disease

Hypereosinophilic Syndrome (HES)

Hyperkalemic Periodic Paralysis

Hypernatremia

Hyperphenylalaninemia

Hypomyelination with Atrophy of Basal ganglia and Cerebellum (H-ABC)

Hyponatremia

Hypoparathyroidism

Hypophosphatasia (HPP)

Hypopituitarism

Hypoplasminogenemia or Type 1 Plasminogen Deficiency

Hypoplastic Left Heart Syndrome (HLHS)

Hypoprothrombinemia

Hypothalamic Dysfunction

Hypoxic Ischemic Encephalopathy (HIE)

J

Jansen Type Metaphyseal Chondrodysplasia

Jordan’s Syndrome

Joubert Syndrome

Juvenile GM1 Gangliosidosis

Juvenile Idiopathic Arthritis (JIA)

Juvenile Myelomonocytic Leukemia (JMML)

K

Kabuki Syndrome

Kallmann Syndrome (KS)

Kaposi Syndrome (KS)

KAT6A Syndrome

Kawasaki Disease

Kearns-Sayre Syndrome (KSS)

Kennedy Disease

Keratoconus

Kidney Stones

KIF1A Associated Neurological Disorder (KAND)

Kleefstra Syndrome

Kleine-Levin Syndrome

Klinefelter Syndrome

Klippel-Feil Syndrome (KFS)

L

L1 Syndrome

Lambert-Eaton Myasthenic Syndrome (LEMS)

Landau Kleffner Syndrome (LKS)

Langerhans Cell Histiocytosis (LCH)

Laron Syndrome

Latent Autoimmune Diabetes in Adults (LADA)

Laurence-Moon Syndrome

Leber Hereditary Optic Neuropathy (LHON)

Leigh Syndrome

Lennox-Gastaut Syndrome (LGS)

LEOPARD Syndrome

Leptin Receptor Deficiency

Leukemia

Leukodystrophy

–18q Syndrome

–4H Syndrome

–Acute Disseminated Encephalomyelitis (ADEM)

–Adrenoleukodystrophy (ALD)

–Adrenomyeloneuropathy (AMN)

–Aicardi-Goutières Syndrome (AGS)

–Alexander Disease (ALX)

–CADASIL

–Canavan Disease

–Cerebrotendinous Xanthomatosis (CTX)

–Childhood Ataxia with Central Nervous System Hypomyelination/Vanishing White Matter (CACH/VWM)

–Hereditary Diffuse Leukoencephalopathy with Spheroids (HDLS)

–Hypomyelination with Brainstem and Spinal Cord Involvement and Leg Spasticity (HBSL)

–Krabbe Disease

–Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation (LBSL)

–Megalencephalic Leukoencephalopathy with Subcortical Cysts (MLC)

–Metachromatic Leukodystrophy

–Pelizaeus Merzbacher Disease (PMD)

–Sjögren-Larsson Syndrome

–X-Linked Spastic Paraplegia

–Zellweger Spectrum Syndromes

–Neonatal Adrenoleukodystrophy (NALD)

Limb-Girdle Muscular Dystrophy

Lip and Oral Cavity Cancer

Lipodystrophy

Lipoprotein Lipase Deficiency (LPLD)

Liposarcoma

Lissencephaly

Loey-Dietz Syndrome

Loin Pain Hematuria Syndrome (LPHS)

Lysosomal Acid Lipase Deficiency (LAL-D)

M

Mabry Syndrome

Macroglossia

Macular Degeneration

– Wet Macular Degeneration

Madelung Disease

Malaria

Malignant Infantile Osteopetrosis

Mantle Cell Lymphoma

Maple Syrup Urine Disease

Marfan Syndrome

Marginal Zone Lymphoma

Mast Cell Activation Syndrome (MCAS)

Mastocytosis

McCune Albright Syndrome (MAS)

Medium-Chain-3-Ketoacyl-Coa Thiolase (MCKAT) Deficiency

Medulloblastoma

Melanoma

Melkersson-Rosenthal Syndrome (MRS)

Membranoproliferative Glomerulonephritis (MPGN)

Membranous Nephropathy

Meniere’s Disease

Merkel Cell Carcinoma

Mesothelioma

– Malignant Pleural Mesothelioma (MPM)

Metastatic Breast Cancer

Metastatic Melanoma

Methylmalonic Acidemia

Methylmalonic Acidemia with Homocystinuria

-Methylmalonic Acidemia With Homocystinuria, Type cblD

Microcephaly

Microscopic Polyangiitis (MPA)

Microvillus Inclusion Disease (MVID)

Milroy Disease

Minimal Change Disease

Misophonia

Mitochondrial Diseases

Mixed Connective Tissue Disease (MCTD)

MOG Antibody Disease (MOGAD)

Moebius Syndrome

Molybdenum Cofactor Deficiency

Mood Disorders

Monoclonal Gammopathy of Undetermined Significance (MGUS)

Motor Neuron Disease

Mowat-Wilson Syndrome

Moyamoya Disease

MPS I (Hurler Syndrome)

MPS II (Hunter Syndrome)

MPS III (Sanfilippo Syndrome)

MPS IV (Morquio Syndrome)

MPS VI (Maroteaux-Lamy Syndrome)

Mucolipidoses (ML)

-Mucolipidosis Type I (ML I or Sialidosis)

-Mucolipidosis Type II (ML II or I-Cell Disease)

–Mucolipidosis Type III (ML III or Pseudo-Hurler Polydystrophy)

-Mucolipidosis Type IV (ML IV)

Multifocal Motor Neuropathy (MMN)

Multiple Endocrine Neoplasia Type 1 (MEN1)

Multiple Epiphyseal Dysplasia (MED)

Multiple Hereditary Exostoses

Multiple Myeloma

Multiple System Atrophy (MSA)

Multiple Sclerosis (MS)

Multiple Sulfatase Deficiency (MSD)

Muscular Dystrophy

Myalgic Encephalomyelitis / Chronic Fatigue Syndrome

Myasthenia Gravis

-Refractory Generalized Myasthenia Gravis (gMG)

Mycobacterium Avium Complex (MAC) Infection

Mycosis Fungoides

Myelodysplastic Syndromes (MDS)

Myositis

Myotonic Dystrophy

N

N-Acetylglutamate Synthetase Deficiency (NAGS)

N-Glycanase (NGLY 1) Deficiency

Nail-Patella Syndrome (NPS)

Nance-Horan Syndrome

Narcolepsy (and Cataplexy)

Nasal Polyposis

Nasopharyngeal Carcinoma (NPC)

Native American Myopathy

Necrotizing Enterocolitis

Necrotizing Fasciitis

Nemaline Myopathy

Neonatal Onset Multisystem Inflammatory Disease (NOMID)

Neonatal Respiratory Distress Syndrome (IRDS)

Nephropathic Cystinosis

Nephrotic-Range Proteinuria

Neuralgia

Neuroblastoma

Neuroendocrine Tumors of Gastroenteric or Pancreatic Origin (GEP-NET)

Neurofibromatosis Type 1

Neurogenic Orthostatic Hypotension (nOH)

Neuromyelitis Optica Spectrum Disorder (NMOSD)

Neurosarcoidosis

Neurotrophic Keratopathy

Neutropenia

Nevoid Basal Cell Carcinoma Syndrome (NBCCS)

NF2-Related Schwannomatosis (Neurofibromatosis Type 2)

Niemann-Pick Disease

Nipah Virus

Non-24 Sleep-Wake Disorder

Nonalcoholic Fatty Liver Disease (NAFLD)

– Nonalcoholic Steatohepatitis (NASH)

Non-Arteritic Anterior Ischemic Optic Neuropathy (NAION)

Non-Hodgkin’s Lymphoma

Nonketotic Hyperglycinemia (NKH)

Nontuberculous Mycobacteria (NTM) Lung Disease

Noonan Syndrome

P

Pachygyria

PACS1 Syndrome

Pancreatic Cancer

Pantothenate Kinase-associated Neurodegeneration (PKAN)

Panuveitis

Papillary Renal Cell Carcinoma (PRCC)

Paraganglioma

Parkes Weber Syndrome

Parkinson’s Disease

Paroxysmal Nocturnal Hemoglobinuria (PNH)

Parsonage Turner Syndrome (PTS)

Pearson Syndrome

Pediatric Autoimmune Neuropsychiatric Disorder Associated With Strep (PANDAS)

Pediatric Eosinophilic Gastrointestinal Disorders (EGID)

Pediatric Growth Hormone Deficiency (GHD)

Pemphigus

Pericarditis

Periodic Paralysis (PP)

Peripheral T-cell Lymphoma (PTCL)

Perthes Disease

Pfeiffer Syndrome

Phelan-McDermid Syndrome

Phenylketonuria (PKU)

Pheochromocytoma

Pierre Robin Sequence

Pigmented Villonodular Synovitis (PVNS)

Pitt-Hopkins Syndrome

Platelet Storage Pool Deficiencies

Poland Syndrome

Polycystic Kidney Disease

– Autosomal Dominant Polycystic Kidney Disease (ADPKD)

– Autosomal Recessive Polycystic Kidney Disease (ARPKD)

Polycystic Ovary Syndrome

Polycythemia Vera (PCV)

Polymyalgia Rheumatica (PMR)

Polymyositis

Pompe Disease

Pontocerebellar Hypoplasia

Porphyria

– Acute Intermittent Porphyria (AIP)

Post-Polio Syndrome

Potter Syndrome

Powassan Virus

Prader-Willi Syndrome

Primary Adrenal Insufficiency (AI)

Primary Biliary Cholangitis (PBC)

Primary Carnitine Deficiency

Primary Ciliary Dyskinesia (PCD)

Primary Hyperoxaluria Type 1 (PH1)

Primary Hyperoxaluria Type 2 (PH2)

Primary Immune Deficiency Diseases

-Chronic Granulomatous Disease (CGD)

-Common Variable Immunodeficiency (CVID)

-Severe Combined Immunodeficiency (SCID)

-Complete DiGeorge Syndrome (22g11.2 deletion)

–WHIM Syndrome

Primary Liver Cancer

Primary Mitochondrial Myopathy

Primary Myelofibrosis

Primary Periodic Paralysis (PPP)

-Hyperkalemic Periodic Paralysis (HyperKPP)

-Hypokalemic Periodic Paralysis

Primary Peritoneal Cancer

Primary Progressive Aphasia

Primary Pulmonary Hypertension (PPH)

Primary Sclerosing Cholangitis

Progeria

Progressive Familial Intrahepatic Cholestasis (PFIC)

Progressive Multifocal Leukoencephalopathy (PML)

Progressive Supranuclear Palsy (PSP)

Proopiomelanocortin (POMC) Deficiency

Propionic Acidemia

Protein C Deficiency

Proteinuria

Pseudobulbar Affect (PBA)

Psoriatic Arthritis

PTEN Hamartoma Tumor Syndrome (PHTS)

-Bannayan-Riley-Ruvalcaba Syndrome

-Cowden Syndrome

-Proteus-like Syndrome

Pulmonary Arterial Hypertension (PAH)

Pulmonary Fibrosis

PURA Syndrome

Pure Autonomic Failure (PAF)

Pyruvate Kinase Deficiency (PKD)

Q

None

R

Recurrent Respiratory Papillomatosis (RRP)

Relapsing Polychondritis

– Embryonal Rhabdomyosarcoma (ERMS)

Rheumatoid Arthritis (RA)

Richter’s Syndrome

ROHHAD

RPE65-associated Leber Congenital Amaurosis (LCA)

Rubinstein-Taybi Syndrome (RTS)

Rumination Disorder

Russell-Silver Syndrome (RSS)

S

Saethre Chotzen Syndrome (SCS)

Sandhoff Disease

Sarcoidosis

SATB2-associated Syndrome (SAS)

Scheuermann’s Kyphosis

Schindler Disease

Schnitzler Syndrome

Schinzel-Giedion Syndrome (SGS)

Schizencephaly

Schmidt Syndrome

Schwartz-Jampel Syndrome

Scimitar Syndrome

Scleroderma

Secondary Hemophagocytic Lymphohistiocytosis (HLH)

Seizure Clusters

Septo-Optic Dysplasia

Severe Acne

Severe Atopic Dermatitis

Severe Combined Immunodeficiency (SCID)

Severe Congenital Neutropenia (SCN)

Sezary Syndrome

Shaken Baby Syndrome

Short Bowel Syndrome (SBS)

Sickle Cell Disease (SCD)

– Sickle Cell Anemia

Silicosis

Sjögren’s Syndrome

Small Cell Lung Cancer (SCLC)

Small Intestine Cancer

Small Lymphocytic Lymphoma (SLL)

Smith-Magenis Syndrome (SMS)

Smoldering Myeloma

Snyder-Robinson Syndrome

Spinal Cord Infarction

Spinal Muscular Atrophy (SMA)

Spinocerebellar Ataxia (SCA)

Spondyleopiphyseal Dysplasia, Congenital (SEDC)

Squamous Cell Carcinoma (SCC)

Stargardt Disease

Status Epilepticus

Stevens-Johnson Syndrome

Stickler Syndrome

Stiff Person Syndrome (SPS)

Stomach Cancer

Sturge-Weber Syndrome

Subglottic Stenosis

SYNGAP1 Syndrome

Syringomyelia

Systemic Mastocytosis

Systemic Scleroderma

T

Takayasu’s Arteritis

TANGO2-Related Metabolic Encephalopathy and Arrhythmias

Tardive Dyskinesia (TD)

Tay-Sachs Disease

Tenosynovial Giant Cell Tumors (TSGCTs)

Testicular Cancer

Tethered (Spinal) Cord Syndrome

Thalassemia

-Beta Thalassemia

-Beta Thalassemia Major

Thoracic Outlet Syndrome (TOS)

Throat Cancer

Thrombocytopenia

Thrombotic Thrombocytopenic Purpura (TTP)

Thymoma

Thyroid Cancer

TK2-Related Mitochondrial DNA Depletion Syndrome (TK2-MDS)

Tourette Syndrome

Transient Global Amnesia

Transitional Cell Carcinoma

Treacher Collins Syndrome

Trisomy 5q

Trisomy 18

Transverse Myelitis (TM)

Trigeminal Neuralgia (TN)

Trimethylaminuria (TMAU)

Trisomy X

Tuberous Sclerosis Complex

Tumor-Induced Osteomalacia

Turner Syndrome

Twin Anemia Polycythemia Sequence (TAPS)

Tyrosinemia (TYR)

U

Ulcerative Colitis

-Pediatric Ulcerative Colitis

V

VACTERL Association

Valvular Heart Disease

Vasculitis

Vertebral Artery Dissection (VAD)

Very-Long-Chain acyl-CoA Dehydrogenase-Deficiency (VLCAD)

Visual Snow Syndrome

Vitreoretinal Lymphoma (VRL)

Von Hippel-Lindau (VHL) Syndrome

Von Willebrand disease (vWD)

Vulvar Cancer

W

WAGR Syndrome

Waldenstrom Macroglobulinemia (WM)

Walker-Warburg Syndrome

Warburg Micro Syndrome

West Nile Virus

West Syndrome (Infantile Spasms)

Williams Syndrome

Wilms’ Tumor

Wilson Disease

Wiskott-Aldrich Syndrome

Wolff-Parkinson-White (WPW) Syndrome

X

X-linked Hypophosphatemia (XLH)

X-Linked Incomplete Achromatopsia

X-Linked Retinoschisis (XLRS)

Xeroderma Pigmentosum (XP)

Y

Yellow Fever

Z

Zika Virus

Rare Diseases and Conditions

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A

B

C

D

E

F

G

H

I

J

K

L

M

N

O

P

Q

R

S

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W

X

Y

Z

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