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

3-methylcrotonyl-CoA carboxylase deficiency

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

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

Alport Syndrome

Alström Syndrome

Alternating Hemiplegia of Childhood (AHC)

Alveolar Capillary Dysplasia

Amniotic Band Syndrome

Amyloidosis

-Hereditary ATTR Amyloidosis

Amyotrophic Lateral Sclerosis (ALS)

Anal Cancer

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

Avascular Necrosis

Axenfeld-Rieger Syndrome

C

Canavan Disease

Cantú Syndrome

Carbamoyl Phosphate Synthetase 1 Deficiency

Carcinoid Syndrome

Carnitine Palmotoyltransferase II Deficiency

Caroli Disease

Carpenter Syndrome

Castleman Disease

CDKL5 Deficiency Disorder

Central Precocious Puberty

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 Fatigue Syndrome (CFS)

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 Immune Deficiency (CVID)

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)

Congenital Nystagmus

Conradi-Hünermann Syndrome

Cornelia de Lange Syndrome (CdLS)

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)

E

Ebola

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

H

Hansen’s Disease (Leprosy)

Helsmoortel-van der Aa Syndrome (HVDAS)

Hemophagocytic lymphohistiocytosis (HLH)

Hepatocellular Carcinoma

Hereditary Angioedema (HAE)

Hereditary Hemorrhagic Telangiectasia (HHT)

Hereditary Multiple Osteochondromas (HMO)

Hereditary Sensory and Autonomic Neuropathy Type 1E (HSAN1E)

Hereditary Sensory and Autonomic Neuropathy Type II (HSAN2)

Hereditary Spastic Paraparesis (HSP)

Heterotaxy Syndrome

Hirschsprung’s Disease

Hypereosinophilic Syndrome (HES)

Hypernatremia

Hyperphenylalaninemia

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

Hypoparathyroidism

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)

Inflammatory Bowel Disease (IBD)

Intracranial Hypertension

Intrahepatic Cholestasis

Intraocular Retinoblastoma

Iritis

Iron Overload Disorder

Isovaleric Acidemia

Ivemark Syndrome

J

Jansen Type Metaphyseal Chondrodysplasia

Joubert Syndrome

Juvenile GM1 Gangliosidosis

Juvenile Idiopathic Arthritis (JIA)

K

KIF1A Associated Neurological Disorder (KAND)

Kabuki Syndrome

Kallmann Syndrome (KS)

Kawasaki Disease

Kearns-Sayre Syndrome (KSS)

Kleine-Levin Syndrome

Klippel-Feil Syndrome (KFS)

Koolen-de Vries Syndrome

Krabbe Disease

M

Macular Degeneration

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)

Medulloblastoma

Melanoma

Melkersson-Rosenthal Syndrome (MRS)

Membranoproliferative Glomerulonephritis (MPGN)

Membranous Nephropathy

Meniere’s Disease

Merkel Cell Carcinoma

Mesothelioma

Metastatic Breast Cancer

Methylmalonic Acidemia

Methylmalonic Acidemia with Homocystinuria

-Methylmalonic Acidemia With Homocystinuria, Type cblD

Microcephaly

Microscopic Polyangiitis (MPA)

Microvillus Inclusion Disease

Minimal Change Disease

Misophonia

Mitochondrial Diseases

Mixed Connective Tissue Disease (MCTD)

Moebius Syndrome

Mood Disorders

Monoclonal Gammopathy of Undetermined Significance (MGUS)

Mowat-Wilson Syndrome (MWS)

Moyamoya Disease

MPS I (Hurler Syndrome)

MPS II (Hunter Syndrome)

MPS III (Sanfilippo Syndrome)

MPS IV (Morquio Syndrome)

MPS VI (Maroteaux-Lamy Syndrome)

Muckle-Wells 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)

Muscular Dystrophy

Myalgic Encephalomyelitis / Chronic Fatigue Syndrome

Myasthenia Gravis

-Refractory Generalized Myasthenia Gravis (gMG)

Mycosis Fungoides

Myelodysplastic Syndromes (MDS)

Myositis

Myotonic Dystrophy

O

Occipital Neuralgia

Ocular Melanoma

Oculopharyngeal Muscular Dystrophy (OPMD)

Opitz Trigonocephaly Syndrome

Organic Acidemia

Orotic Aciduria Type 1

Osteogenesis Imperfecta

P

Pediatric Autoimmune Neuropsychiatric Disorder Associated With Strep (PANDAS)

Pancreatic Cancer

Pantothenate Kinase-associated Neurodegeneration (PKAN)

Panuveitis

Papillary Renal Cell Carcinoma

Parkes Weber Syndrome

Parkinson’s Disease

Paroxysmal Nocturnal Hemoglobinuria (PNH)

Pediatric Growth Hormone Deficiency (GHD)

Pelizaeus Merzbacher Disease (PMD)

Pemphigus

Pfeiffer Syndrome

Phelan-McDermid Syndrome

Phenylketonuria (PKU)

Pheochromocytoma

Pierre Robin Sequence

Pitt-Hopkins Syndrome

Polycystic Kidney Disease

-Autosomal Dominant Polycystic Kidney Disease (ADPKD)

-Autosomal Recessive Polycystic Kidney Disease (ARPKD)

Polycythemia Vera (PCV)

Polymyositis

Pompe Disease

Porphyria

Postural Orthostatic Tachycardia Syndrome (POTS)

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 Peritoneal Cancer (PPC)

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

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

Retinitis Pigmentosa

Rett Syndrome

Rheumatoid Arthritis (RA)

Richter’s Syndrome

ROHHAD

RPE65-associated Leber Congenital Amaurosis (LCA)

Rubinstein-Taybi Syndrome (RTS)

Rumination Disorder

S

Saethre Chotzen Syndrome (SCS)

Sandhoff Disease

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

Severe Combined Immunodeficiency (SCID)

Sezary Syndrome

Shaken Baby Syndrome

Short Bowel Syndrome (SBS)

Sickle Cell Anemia

Sickle Cell Disease

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

Subglottic Stenosis

Syringomyelia

Systemic Scleroderma

U

Ulcerative Colitis

-Pediatric Ulcerative Colitis

Urea Cycle Disorders

Usher Syndrome

Uveitis

V

VACTERL Association

Vasculitis

Vertebral Artery Dissection (VAD)

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

Von Hippel-Lindau (VHL) Syndrom

Von Willebrand disease (vWD)

Vulvar Cancer

W

WAGR Syndrome

Waldenstrom Macroglobulinemia (WM)

Warburg Micro Syndrome

West Nile Virus

West Syndrome (Infantile Spasms)

WHIM Syndrome

Williams Syndrome

Wilson Disease

Wiskott-Aldrich Syndrome

Wolff-Parkinson-White (WPW) Syndrome

X

X-linked Hypophosphatemia (XLH)

Y

None

Z

Zellweger Spectrum Syndromes

Zika Virus

Rare Diseases and Conditions

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