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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A

Aagenaes 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

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

Activated PI3K-Delta Syndrome

Acute Flaccid Myelitis (AFM)

Acute Lymphoblastic Leukemia 

Acute Myelogenous Leukemia (AML)

Acute Respiratory Distress Syndrome (ARDS)

Addison’s Disease

Adenoid Cystic Carcinoma (ACC)

Adenosine Deaminase (ADA) Deficiency

ADNP Syndrome

Adult-Onset Still’s Disease (AOSD)

Adult Polyglucosan Body Disease (APBD)

Aicardi Syndrome

Alagille Syndrome

Albinism

Alkaptonuria

Allan-Herndon-Dudley Syndrome (AHDS)

Alpers Syndrome

Alpha-1 Antitrypsin Deficiency (A1AD)

Alpha-Mannosidosis

Alport Syndrome

Alström Syndrome

Alveolar Capillary Dysplasia

Alzheimer’s Disease

Amniotic Band Syndrome

Amyloidosis

-Hereditary ATTR Amyloidosis

Amyotrophic Lateral Sclerosis (ALS)

Anal Cancer

Anaplastic Large Cell Lymphoma (ALCL)

Anencephaly

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)

Autosomal Recessive Polycystic Kidney Disease (ARPKD)

Avascular Necrosis

Axenfeld-Rieger Syndrome

C

C3 Glomerulopathy

Cantú Syndrome

Carbamoyl Phosphate Synthetase 1 Deficiency

Carcinoid Syndrome

Carnitine Palmotoyltransferase II Deficiency

Caroli Disease

Castleman Disease

Cauda Equina Syndrome (CES)

Caudal Regression Syndrome

CDKL5

Central Precocious Puberty

Cerebral Palsy

Cervical Dystonia

Chagas Disease

Char Syndrome

Charcot-Marie-Tooth Disease (CMT)

CHARGE Syndrome

Chang Davidson Carlson Syndrome

Chiari Malformation

Chikungunya Virus

Cholera

Chordoma

Choroidermia

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 Recurrent Multifocal Osteomyelitis

Chudley Rozdilsky Syndrome

Churg-Strauss Syndrome

Citrullinemia Type 1

Cleidocranial Dysostosis

CLOVES Syndrome

Coffin-Siris Syndrome

Cold Agglutinin Disease (CAD)

Common Variable Immunodeficiency (CVID)

Complex Regional Pain Syndrome (CRPS)

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 Generalized Lipodystrophy (CGL)

Congenital Leptin Deficiency

Congenital Muscular Dystrophy (CMD)

Congenital Nephrotic Syndrome (CNS)

Congenital Nystagmus

Conradi-Hünermann Syndrome

Cornelia de Lange Syndrome (CdLS)

Costello Syndrome

Craniosynostosis

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 T-cell Lymphomas (CTCLs)

Cyclic Vomiting Syndrome (CVS)

Cyclin-Dependent Kinase-Like 5 (CDKL5)

Cystic Fibrosis (CF)

Cystinosis

Cytomegalovirus (CMV)

L

L1 Syndrome

Lambert-Eaton Myasthenic Syndrome (LEMS)

Landau Kleffner Syndrome (LKS)

Langerhans Cell Histiocytosis (LCH)

Laron Syndrome

Laurence-Moon Syndrome

Leber Hereditary Optic Neuropathy (LHON)

Leigh Syndrome

Lennox-Gastaut Syndrome (LGS)

LEOPARD Syndrome

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)

                  –Refsum Disease

                  –Zellweger Syndrome

Leukoencephalopathy

Li-Fraumeni Syndrome

Lichen Sclerosis 

Limb-Girdle Muscular Dystrophy

Lipoprotein Lipase Deficiency (LPLD)

Liposarcoma

Lissencephaly

Loin Pain Hematuria Syndrome (LPHS)

Long QT Syndrome

Lou Gehrig’s Disease

Lupus

Lupus Nephritis

Lyme Disease

Lynch Syndrome

Lysosomal Acid Lipase Deficiency (LAL-D)

P

Pediatric Autoimmune Neuropsychiatric Disorder Associated With Strep (PANDAS)

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)

Pediatric Growth Hormone Deficiency (GHD)

Pfeiffer Syndrome

Phelan-McDermid Syndrome

Phenylketonuria (PKU)

Pheochromocytoma 

Pierre Robin Sequence

Pitt-Hopkins Syndrome

Polycystic Kidney Disease

Polycystic Ovary Syndrome

Polycythemia Vera (PCV)

Polymyositis

Pompe Disease

Porphyria

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)

       –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)

Propionic Acidemia

Protein C Deficiency

Proteinuria

Psoriatic Arthritis

PTEN Hamartoma Tumor Syndrome (PHTS)

-Bannayan-Riley-Ruvalcaba Syndrome

-Cowden Syndrome

-Proteus-like Syndrome

Pulmonary Arterial Hypertension (PAH)

Pulmonary Fibrosis

PURA Syndrome

Q

None 

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