Rare Diseases and Conditions

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

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15q24 Microdeletion Syndrome

2-Methyl-3-Hydroxybutyric Aciduria

3-methylcrotonyl-CoA carboxylase deficiency

A

Aagenaes 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

Acquired agranulocytosis

Acquired amegakaryocytic thrombocytopenia

Acquired ichthyosis

Acral dysostosis dyserythropoiesis

Acral lentiginous melanoma

Acro Dermato Ungual Lacrimal Tooth Syndrome

Acromegaly

Acro-pectoro-renal field defect

Acute Myelogenous Leukemia (AML)

Acute Respiratory Distress Syndrome (ARDS)

Addison’s Disease

Adenoid Cystic Carcinoma (ACC)

Adenosine Deaminase (ADA) Deficiency

ADNP Syndrome

Adrenoleukodystrophy (ALD)

Adult-Onset Still’s Disease (AOSD)

Adult Polyglucosan Body Disease (APBD)

Aicardi Syndrome

Aicardi-Goutières Syndrome (AGS)

Alagille Syndrome

Albinism

Alkaptonuria

Allan-Herndon-Dudley Syndrome (AHDS)

Alpers Syndrome

Alpha-1 Antitrypsin Deficiency (A1AD)

Alpha-Mannosidosis

Alveolar Capillary Dysplasia

Amniotic Band Syndrome

Amyloidosis

-Hereditary ATTR Amyloidosis

Amyotrophic Lateral Sclerosis (ALS)

Anal Cancer

Angelman Syndrome

Ankylosing Spondylitis (AS)

Antiphospholipid Syndrome

Apert Syndrome

Aplastic Anemia

Arginase Deficiency Disorder

Arthrogryposis Multiplex Congenita (AMC)

Ataxia-telangiectasia

Atrial Fibrillation (AF)

Atypical Hemolytic-Uremic Syndrome

Autoimmune Autonomic Ganglionopathy (AAG)

Autoimmune Hepatitis

Autoimmune Polyglandular Syndrome Type 1 (APS1)

Autoimmune Polyglandular Syndrome Type 2 (APS2)

Autoimmune Polyglandular Syndrome Type 3 (APS3)

Autoinflammatory Diseases

Autosomal Dominant Polycystic Kidney Disease (ADPKD)

Avascular Necrosis

Axenfeld-Rieger Syndrome

B

Babesiosis

Bannayan-Riley-Ruvalcaba Syndrome

Bardet-Biedl Syndrome

Barth Syndrome

Batten Disease (NCL)

Beckwith-Wiedemann Syndrome (BWS)

Behçet’s Disease

Bell’s Palsy

Bernard-Soulier Syndrome (BSS)

Beta Thalassemia

-Beta Thalassemia Major

Bile Acid Synthesis Disorders (BASDs)

Biliary Atresia

Bohring-Opitz Syndrome

Brain/Spinal Cord Cancers in Adults

Brain/Spinal Cord Cancers in Children

BRCA-mutated Breast Cancer

Bronchiectasis

Bronchopulmonary Dysplasia (BPD)

Brown-Vialetto-Van Laere Syndrome (BVVL)

C

Canavan Disease

Cantú Syndrome

Carbamoyl Phosphate Synthetase 1 Deficiency

Carcinoid Syndrome

Carnitine Palmotoyltransferase II Deficiency

Caroli Disease

Castleman Disease

Central Precocious Puberty

Cerebral Palsy

Cervical Dystonia

Char Syndrome

Charcot-Marie-Tooth Disease (CMT)

CHARGE Syndrome

Chang Davidson Carlson Syndrome

Chiari Malformation

Choroidermia

Chromosome 5q Duplication

Chromosome 15q Duplication

Chromosome 22 Ring

Chronic Active Epstein-Barr Virus (CAEBV)

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 Recurrent Multifocal Osteomyelitis

Chudley Rozdilsky Syndrome

Churg-Strauss Syndrome

Citrullinemia Type 1

Cleidocranial Dysostosis

CLOVES Syndrome

Coffin-Siris Syndrome

Cold Agglutinin Disease (CAD)

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

Congenital Nephrotic Syndrome (CNS)

Conradi-Hünermann Syndrome

Cornelia de Lange Syndrome (CdLS)

Costello Syndrome

Craniosynostosis

Cri du Chat Syndrome

Crouzon Syndrome

Cryopyrin-Associated Autoinflammatory Syndromes (CAPS)

-Familial Cold Autoinflammatory Syndrome (FCAS)

-Muckle-Wells Syndrome (MWS)

-Neonatal-Onset Multisystem Inflammatory Disease (NOMID)

CSF Leak

Cushing Disease

Cutaneous T-cell Lymphomas (CTCLs)

Cyclic Vomiting Syndrome (CVS)

Cyclin-Dependent Kinase-Like 5 (CDKL5)

Cystic Fibrosis (CF)

Cystinosis

Cytomegalovirus (CMV)

D

Dandy-Walker Malformation

DDX3X Mutations

Dercum Disease

Dermatomyositis

-Juvenile Dermatomyositis (JDM)

Devic’s Syndrome (Neuromyelitis Optica)

Diamond-Blackfan Anemia

Diastrophic Dysplasia

Diffuse Intrinsic Pontine Gliomas (DIPG)

Distal Renal Tubular Acidosis (dRTA)

Dopamine Beta-Hydroxylase (DβH) Deficiency

Dravet Syndrome

Dup15q Syndrome

Dysautonomia

-Postural Orthostatic Tachycardia Syndrome (POTS)

Dystonia

Duchenne Muscular Dystrophy (DMD)

Dupuytren’s Contracture

Dwarfism

E

Ectrodactyly Ectodermal Dysplasia Cleft Lip/Palate (EEC)

Edwards Syndrome

Ehlers-Danlos Syndrome (EDS)

Eisenmenger Syndrome

Eosinophilic Esophagitis (EoE)

Eosinophilic Fasciitis

Eosinophilic Gasteroenteritis (EG)

Epidermolysis Bullosa (EB)

Erdheim-Chester Disease (ECD)

Erythromelalgia

Esophageal Cancer

F

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)

Farber’s Disease

Fatal Familial Insomnia

Fatty Oxidation Disorder

Fetal Alcohol Syndrome

Fibrinogen Deficiency

Fibrodysplasia Ossificans Progressiva (FOP)

Focal Segmental Glomerulosclerosis (FSGS)

Follicular Lymphoma

Food Protein-Induced Enterocolitis Syndrome (FPIES)

Foreign Accent Syndrome (FAS)

Fragile X Syndrome (FXS)

Friedreich Ataxia (FRDA)

Functional Neurologic Disorder

G

Gastrointestinal Stromal Tumors (GISTs)

Gastroparesis

Gastroschisis

Gaucher Disease

Glanzmann Thrombasthenia

Glaucoma

Glioblastoma

Glomerulonephritis

GLUT1 (DS) Deficiency Syndrome

Glutaric Acidemia Type I

GNE Myopathy

Goldmann-Favre Syndrome (GFS)

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

H

Helsmoortel-van der Aa Syndrome (HVDAS)

Hematohidrosis

Hemicrania Continua

Hemiplegia

Hemiplegic Migraine

Hemochromatosis

Hemophagocytic lymphohistiocytosis (HLH)

-Primary HLH

-Secondary HLH

Hemophilia

-Hemophilia A

-Hemophilia B

Hepatic Porphyria

Hepatocellular Carcinoma

Hereditary Angioedema (HAE)

Hereditary Hemorrhagic Telangiectasia (HHT)

Hereditary Multiple Osteochondromas (HMO)

Hereditary Sensory and Autonomic Neuropathy Type 1E (HSAN1E)

Hereditary Spastic Paraparesis (HSP)

Heterotaxy Syndrome

Hirschsprung’s Disease

Hodgkin Lymphoma

Homocystinuria

Huntington’s Disease

Hydrocephalus

Hyperkalemia

Hypereosinophilic Syndrome (HES)

Hypernatremia

Hyperphenylalaninemia

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

Hypophosphatasia (HPP)

Hypopituitarism

Hypoplasminogenemia or Type 1 Plasminogen Deficiency

Hypoplastic Left Heart Syndrome (HLHS)

Hypoprothrombinemia

Hypoxic Ischemic Encephalopathy (HIE)

I

Ichthyosis

Idiopathic Hypersomnia

Idiopathic Thrombocytopenic Purpura (ITP)

Idiopathic Pulmonary Fibrosis (IPF)

IgA Nephropathy (IgAN)

Inclusion Body Myositis (IBM)

Incontinentia Pigmenti (IP)

Intracranial Hypertension

Intrahepatic Cholestasis

Iritis

Iron Overload Disorder

Isovaleric Acidemia

Ivemark Syndrome

J

Jansen Type Metaphyseal Chondrodysplasia

Joubert Syndrome

Juvenile GM1 Gangliosidosis

Juvenile Idiopathic Arthritis (JIA)

K

Kabuki Syndrome

Kallmann Syndrome (KS)

Keratoconus

Kidney Stones

Klippel-Feil Syndrome (KFS)

Krabbe Disease

L

L1 Syndrome

Lambert-Eaton Myasthenic Syndrome (LEMS)

Landau Kleffner Syndrome (LKS)

Langerhans Cell Histiocytosis (LCH)

Laron Syndrome

Laurence-Moon Syndrome

Lennox-Gastaut Syndrome (LGS)

LEOPARD Syndrome

Leukodystrophy

Lichen Sclerosus 

Lipoprotein Lipase Deficiency (LPLD)

Lissencephaly

Loin Pain Hematuria Syndrome (LPHS)

Long QT Syndrome

Lou Gehrig’s Disease

Lupus Nephritis

Lysosomal Acid Lipase Deficiency (LAL-D)

M

Malignant Infantile Osteopetrosis

Mantle Cell Lymphoma

Maple Syrup Urine Disease

Marfan Syndrome

Marginal Zone Lymphoma

Mastocytosis

McCune Albright Syndrome (MAS)

Melanoma

Melkersson-Rosenthal Syndrome (MRS)

Membranoproliferative Glomerulonephritis (MPGN)

Membranous Nephropathy

Meniere’s Disease

Mesothelioma

Methylmalonic Acidemia 

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

Mood Disorders

Monoclonal Gammopathy of Undetermined Significance (MGUS)

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)

Multiple Endocrine Neoplasia Type 1 (MEN1)

Multiple Myeloma

Multiple System Atrophy (MSA)

Multiple Sclerosis (MS)

Multiple Sulfatase Deficiency (MSD)

Myalgic Encephalomyelitis / Chronic Fatigue Syndrome

Myasthenia Gravis

-Refractory Generalized Myasthenia Gravis (gMG)

Mycosis Fungoides

Myelodysplastic Syndromes (MDS)

Myositis

Myotonic Dystrophy

N

N-Acetylglutamate Synthetase Deficiency (NAGS)

N-Glycanase (NGLY 1) Deficiency

Narcolepsy (and Cataplexy)

Nemaline Myopathy

Neonatal Respiratory Distress Syndrome (IRDS)

Nephrotic-Range Proteinuria

Neuralgia

Neuroblastoma

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

Neurofibromatosis

Neurogenic Orthostatic Hypotension (nOH)

Neutropenia

Niemann-Pick Disease

Non-24 Sleep-Wake Disorder

Nonalcoholic Steatohepatitis (NASH)

Non-Arteritic Anterior Ischemic Optic Neuropathy (NAION)

Nontuberculous Mycobacteria (NTM) Lung Disease

Noonan Syndrome

O

Occipital Neuralgia

Oculopharyngeal Muscular Dystrophy (OPMD)

Organic Acidemia

Orotic Aciduria Type 1

Osteogenesis Imperfecta

Osteomyelitis

Osteonecrosis

Osteosarcoma

Ovarian Cancer

P

Pediatric Autoimmune Neuropsychiatric Disorder Associated With Strep (PANDAS)

Pancreatic Cancer

Pantothenate Kinase-associated Neurodegeneration (PKAN)

Panuveitis

Parkes Weber Syndrome

Parkinson’s Disease

Paroxysmal Nocturnal Hemoglobinuria (PNH)

Pediatric Growth Hormone Deficiency (GHD)

Pelizaeus Merzbacher Disease (PMD)

Pfeiffer Syndrome

Phelan-McDermid Syndrome

Phenylketonuria (PKU)

Pheochromocytoma 

Pierre Robin Sequence

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 Hemophagocytic lymphohistiocytosis (HLH)

Primary Hyperhidrosis

Primary Hyperoxaluria Type 1 (PH1)

Primary Immune Deficiency Diseases

-Chronic Granulomatous Disease (CGD)

-Common Variable Immunodeficiency (CVID)

-Severe Combined Immunodeficiency (SCID)

      -Complete DiGeorge Syndrome (22g11.2 deletion)

Primary Liver Cancer

Primary Mitochondrial Myopathy

Primary Myelofibrosis

Primary Periodic Paralysis (PPP)

-Hyperkalemic Periodic Paralysis (HyperKPP)

-Hypokalemic Periodic Paralysis

Primary Pulmonary Hypertension (PPH)

Primary Sclerosing Cholangitis

Progeria

Progressive Familial Intrahepatic Cholestasis (PFIC)

Progressive Supranuclear Palsy (PSP)

Propionic Acidemia

Protein C Deficiency

Psoriatic Arthritis

PTEN Hamartoma Tumor Syndrome (PHTS)

-Bannayan-Riley-Ruvalcaba Syndrome

-Cowden Syndrome

-Proteus-like Syndrome

Pulmonary Arterial Hypertension (PAH)

PURA Syndrome

Q

None

R

Relapsing Polychondritis

Renal Cell Carcinoma

Rett Syndrome

Rheumatoid Arthritis (RA)

ROHHAD

RPE65-associated Leber Congenital Amaurosis (LCA)

Rubinstein-Taybi Syndrome (RTS)

Rumination Disorder

S

Saethre Chotzen Syndrome (SCS)

Sarcoidosis

SATB2-associated Syndrome (SAS)

Scheuermann’s Kyphosis

Schnitzler Syndrome

Schinzel-Giedion Syndrome (SGS)

Schizencephaly

Schmidt Syndrome

Schwartz-Jampel Syndrome

Scimitar Syndrome

Scleroderma

Secondary Hemophagocytic Lymphohistiocytosis (HLH)

Septo-Optic Dysplasia

Severe Acne

Severe Atopic Dermatitis

Shaken Baby Syndrome

Short Bowel Syndrome (SBS)

Sickle Cell Anemia

Sjögren’s Syndrome

Smith-Magenis Syndrome (SMS)

Snyder-Robinson Syndrome

Soft Tissue Sarcoma

Sotos Syndrome

Spina Bifida

Spinal Cord Infarction

Spinal Muscular Atrophy (SMA)

Spinocerebellar Ataxia (SCA)

Spondyleopiphyseal Dysplasia, Congenital (SEDC)

Stargardt Disease

Status Epilepticus

Stevens-Johnson Syndrome

Stickler Syndrome

Stiff Person Syndrome (SPS)

Stomach Cancer

Sturge-Weber Syndrome

Syringomyelia

Systemic Scleroderma

T

Takayasu’s Arteritis 

Tardive Dyskinesia (TD)

Tay-Sachs Disease

Testicular Cancer

Tethered (Spinal) Cord Syndrome

Thoracic Outlet Syndrome (TOS)

Thrombocytopenia

Thyroid Cancer

Treacher Collins Syndrome

Trisomy 5q

Trisomy 18

Tuberous Sclerosis Complex

Tourette Syndrome

Transverse Myelitis (TM)

Trigeminal Neuralgia (TN)

Trimethylaminuria (TMAU)

Trisomy X

Turner Syndrome

Tyrosinemia (TYR)

U

Ulcerative Colitis

-Pediatric Ulcerative Colitis

Urea Cycle Disorders

Uveitis

V

VACTERL Association

Vasculitis

Vertebral Artery Dissection (VAD)

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

Von Hippel-Lindau (VHL) Syndrome

Von Willebrand disease (vWD)

W

Waldenstrom Macroglobulinemia (WM)

Warburg Micro Syndrome

West Syndrome (Infantile Spasms)

Williams Syndrome

Wilson Disease

Wiskott-Aldrich Syndrome

Wolff-Parkinson-White (WPW) Syndrome

X

X-linked Hypophosphatemia (XLH)

Y

None

Z

Zellweger Spectrum Syndromes

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