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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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


Acanthamoeba infection


Acanthosis nigricans



Accessory deep peroneal nerve

Accessory pancreas

Accutane embryopathy


Acetyl-carnitine deficiency

Acetyl-coa acetyltransferase 2 deficiency


Achalasia microcephaly

Achard-Thiers syndrome


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


Acro-pectoro-renal field defect

Activated PI3K-Delta Syndrome

Acute Flaccid Myelitis (AFM)

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



Allan-Herndon-Dudley Syndrome (AHDS)

Alpers Syndrome

Alpha-1 Antitrypsin Deficiency (A1AD)


Alport Syndrome

Alveolar Capillary Dysplasia

Amniotic Band Syndrome


-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)


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


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

Chagas Disease

Char Syndrome

Charcot-Marie-Tooth Disease (CMT)

CHARGE Syndrome

Chang Davidson Carlson Syndrome

Chiari Malformation




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 Contractural Arachnodactyly (CCA) Syndrome

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


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)

CSF Leak

Cushing Disease

Cutaneous T-cell Lymphomas (CTCLs)

Cyclic Vomiting Syndrome (CVS)

Cyclin-Dependent Kinase-Like 5 (CDKL5)

Cystic Fibrosis (CF)


Cytomegalovirus (CMV)


Pediatric Autoimmune Neuropsychiatric Disorder Associated With Strep (PANDAS)

Pancreatic Cancer

Pantothenate Kinase-associated Neurodegeneration (PKAN)


Parkes Weber Syndrome

Parkinson’s Disease

Paroxysmal Nocturnal Hemoglobinuria (PNH)

Parsonage Turner Syndrome (PTS)

Pediatric Growth Hormone Deficiency (GHD)

Pelizaeus Merzbacher Disease (PMD)

Pfeiffer Syndrome

Phelan-McDermid Syndrome

Phenylketonuria (PKU)


Pierre Robin Sequence

Pitt-Hopkins Syndrome

Polycystic Ovary Syndrome

Polycythemia Vera (PCV)


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


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)

Pulmonary Fibrosis

PURA Syndrome





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