OrphaChat — a Rare Disease Podcast

By RCH

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Category: Medicine

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Episodes: 289

Description

Rare disease topics discussed by two virtual hosts. This is not medical advice and may contain mistakes, hallucinations and awkward pronunciation. Content is provided as is. This project does not represent professional or institutional opinions. Feedback is welcome.

Episode Date
Cone-Rod Dystrophy
Mar 18, 2026
46,XX Ovotesticular Difference of Sex Development
Mar 17, 2026
Diffuse Palmoplantar Keratoderma, Bothnian Type
Mar 16, 2026
Gitelman Syndrome
Mar 15, 2026
Oculocutaneous Albinism Type 1
Mar 14, 2026
Leber Congenital Amaurosis
Mar 12, 2026
Pseudoxanthoma Elasticum
Mar 11, 2026
Isolated Radial Hemimelia
Mar 10, 2026
Oculocutaneous Albinism Type 2
Mar 09, 2026
Meckel-Gruber Syndrome
Mar 08, 2026
3-Methylcrotonyl-CoA Carboxylase Deficiency
Mar 07, 2026
Autoimmune Pulmonary Alveolar Proteinosis
Mar 06, 2026
Leigh Syndrome
Mar 05, 2026
Achromatopsia
Mar 04, 2026
Congenitally corrected transposition of the great arteries (ccTGA)
Feb 22, 2026
Fecal Incontinence Following Ileal Pouch-Anal Anastomosis
Feb 22, 2026
Hereditary Multiple Osteochondromas (HMO)
Feb 22, 2026
Toxic shock syndrome (TSS)
Feb 22, 2026
Pompe Disease, Glycogen Storage Disease Type II (Acid Maltase Deficiency)
Feb 22, 2026
Methotrexate Toxicity
Feb 22, 2026
Malaria (as of 2025)
Feb 22, 2026
Saethre-Chotzen Syndrome, Syndromic Craniosynostosis
Feb 22, 2026
Myelofibrosis
Feb 22, 2026
Adult T-cell leukaemia/lymphoma (ATL)
Feb 22, 2026
Skeletal Dysplasia (Hypochondroplasia and Achondroplasia)
Feb 22, 2026
Hemophilia B
Feb 22, 2026
Bladder Extrophy
Feb 22, 2026
Kabuki Syndrome
Feb 22, 2026
Prader-Willi syndrome (PWS)
Feb 21, 2026
Still Disease / Systemic Juvenile Idiopathic Arthritis (sJIA), macrophage activation syndrome (MAS)
Feb 21, 2026
Immune Mediated Peripheral Neuropathies (acute AIPD, chronic CIPD), incl. Gullain-Barré Syndrome (GBS)
Feb 21, 2026
Polyarteritis Nodosa (PAN)
Feb 21, 2026
Gastrointestinal Neuroendocrine Tumors
Feb 21, 2026
Primary Carnitine Deficiency
Feb 21, 2026
Acatalasemia
Feb 21, 2026
Dravet Syndrome
Feb 21, 2026
Multiple Endocrine Neoplasia type 1 (MEN1)
Feb 21, 2026
Achondroplasia and Pseudoachondroplasia
Feb 21, 2026
Inverted Duplicated / Isodicentric Chromosome 15 Syndrome
Feb 21, 2026
Muenke Syndrome (Apert and Crouzon Syndrome )
Feb 21, 2026
Darier’s Disease
Feb 21, 2026
Beckwith-Wiedemann Syndrome (BWS)
Feb 21, 2026
Ebstein’s Anomaly
Feb 21, 2026
Thanatophoric Dysplasia
Feb 21, 2026
Sturge-Weber Syndrome (SWS)
Feb 20, 2026
Mantle Cell Lymphoma (MCL)
Feb 20, 2026
Hereditary Neuropathy with liability to Pressure Palsies (HNPP)
Feb 20, 2026
Antisynthetase syndrome
Feb 04, 2026
Multiple System Atrophy (MSA)
Feb 04, 2026
Chronic Inflammatory Demyelinating Polyradiculoneuropathy (CIDP)
Feb 04, 2026
Worster-Drought Syndrome
Feb 04, 2026
Smith-Lemli-Opitz syndrome
Feb 04, 2026
Kallmann Syndrome / Congenital Hypogonadotropic Hypogonadism
Feb 04, 2026
Kennedy’s disease (SBMA)
Feb 04, 2026
Interstitial lung diseases (ILD)
Feb 04, 2026
Amyotrophic Lateral Sclerosis (ALS)
Feb 04, 2026
Porphyria Cutanea Tarda (PCT)
Feb 04, 2026
Arginine vasopressin deficiency (AVP-D)
Feb 04, 2026
Congenital lobar emphysema (CLE / CPAM)
Feb 04, 2026
Williams syndrome and Supravalvular Aortic Stenosis (SVAS)
Feb 04, 2026
MALT Lymphoma
Feb 04, 2026
Bardet-Biedl and Meckel-Gruber Ciliopathies
Feb 04, 2026
Merkel Cell Carcinoma
Feb 04, 2026
Pallister-Killian syndrome
Feb 04, 2026
Familial Thyroid Dyshormonogenesis
Feb 04, 2026
Posterior urethral valves (PUV)
Feb 04, 2026
Achondroplasia
Feb 04, 2026
Common Arterial Trunk / Truncus Arteriosus
Jan 26, 2026
Tritanopia / colour vision deficiency (CVD)
Jan 26, 2026
Colonic Atresia
Jan 26, 2026
Neurotrophic Keratopathy (NK)
Jan 26, 2026
Hartnup Disease
Jan 26, 2026
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis
Jan 26, 2026
Herpes Simplex Virus Stromal Keratitis
Jan 26, 2026
Microscopic Polyangiitis / ANCA-associated vasculitis (AAV)
Jan 26, 2026
Leber Hereditary Optic Neuropathy (LHON)
Jan 26, 2026
Arthrogryposis Multiplex Congenita (AMC)
Jan 26, 2026
Enlarged Parietal Foramina (EPF)
Jan 26, 2026
Facioscapulohumeral Muscular Dystrophy (FSHD)
Jan 26, 2026
Congenital Heart Block (CHB)
Jan 26, 2026
Achondroplasia
Jan 26, 2026
Medullary Thyroid Cancer (MTC)
Jan 26, 2026
Graft-Versus-Host Disease (GVHD)
Jan 26, 2026
Hereditary Fructose Intolerance (HFI) (not fructose malabsorption!)
Jan 26, 2026
Albers Schönberg Osteopetrosis
Jan 26, 2026
AL-Amyloidosis
Jan 25, 2026
Pierre Robin Sequence
Jan 25, 2026
Pyruvate Kinase (PK) Deficiency
Jan 25, 2026
X-linked retinoschisis (XLRS) & autosomal recessive bestrophinopathy
Jan 25, 2026
Sanfilippo Syndrome / Mucopolysaccharidosis Type III
Jan 25, 2026
Amyotrophic Lateral Sclerosis (ALS)
Jan 25, 2026
Primary Mediastinal B-cell Lymphoma (PMBCL)
Jan 25, 2026
Progressive Supranuclear Palsy (PSP)
Jan 25, 2026
Split-hand/foot malformation (SHFM) / Ectrodactyly
Jan 25, 2026
Turner Syndrome
Jan 25, 2026
Familial Hypocalciuric Hypercalcaemia (FHH)
Jan 25, 2026
Smith-Magenis Syndrome (SMS)
Jan 25, 2026
Tricuspid Atresia
Jan 12, 2026
Familial Adenomatous Polyposis (FAP)
Jan 12, 2026
Enthesitis-related Arthritis (ERA)
Jan 12, 2026
Short-lasting Unilateral Neuralgiform headache attacks (SUNHA), which include SUNCT and SUNA
Jan 12, 2026
Benign Schwannoma
Jan 12, 2026
Infantile Epileptic Spasm Syndrome (IESS)
Jan 12, 2026
Non-Tuberculous mycobacteria (NTM)
Jan 12, 2026
Cerebral Arteriovenous Malformation
Jan 12, 2026
Chronic Myeloid Leukemia (CML)
Jan 12, 2026
Tibial Muscular Dystrophy (TMD)
Jan 12, 2026
Fryns Syndrome
Jan 12, 2026
Retinoblastoma
Jan 12, 2026
Wilson Disease
Jan 12, 2026
VATER/VACTERL Association
Jan 12, 2026
CHARGE Syndrome
Jan 12, 2026
Cat Scratch Disease
Jan 12, 2026
Fabry Disease
Jan 12, 2026
Ectodermal Dysplasia
Jan 12, 2026
Iminoglycinuria
Jan 12, 2026
Pendred Syndrome
Jan 12, 2026
Idiopathic Inflammatory Myopathies (IIM)
Jan 07, 2026
Sotos Syndrome
Jan 07, 2026
Single Ventricle Heart Disease
Jan 07, 2026
Laryngeal Clefts & VACTERL Association
Jan 07, 2026
Congenital Adrenal Hyperplasia (CAH) / 21-Hydroxylase Deficiency
Jan 07, 2026
Angelman Syndrome
Jan 07, 2026
Dermatomyositis &  Idiopathic Inflammatory Myopathies (IIM)
Jan 07, 2026
Sporadic Adult-Onset Ataxia (SAOA)
Jan 07, 2026
Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD)
Jan 07, 2026
Juvenile Idiopathic Arthritis (JIA)
Jan 07, 2026
Achalasia
Jan 07, 2026
Congenital Adrenal Hyperplasia (CAH) & Adrenal Hypoplasia Congenita (AHC)
Jan 07, 2026
Osteogenesis Imperfecta (OI)
Jan 07, 2026
Congenital Pulmonary Airway Malformation (CPAM)
Jan 07, 2026
Apnea of Prematurity
Jan 07, 2026
Intestinal Atresia / small bowel atresia
Jan 07, 2026
Duodenal atresia / congenital duodenal obstruction
Jan 07, 2026
Granulomatosis with Polyangiitis (GPA), ANCA associated vasculitis (AAV)
Jan 05, 2026
Gardner Syndrome (APC-Gene Mutation)
Jan 05, 2026
Total Anomalous Pulmonary Venous Connection / Return (TAPVC / TAPVR)
Jan 05, 2026
Duchenne Muscular Dystrophy
Jan 05, 2026
Aplasia Cutis Congenita
Jan 05, 2026
Sickle Cell Disease (SCD) / Anemia
Jan 05, 2026
Duane Retraction Syndrome (DRS)
Jan 05, 2026
Dermatofibrosarcoma protuberans (DFSP)
Jan 05, 2026
Septo-Optic Dysplasia (SOD)
Jan 05, 2026
Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT)
Jan 05, 2026
Dysbetalipoproteinemia / Type 3 Hyperlipoproteinemia
Jan 05, 2026
Aicardi-Goutières Syndrome (AGS)
Jan 05, 2026
Hemiplegic Migraine (HM)
Jan 05, 2026
Nephroblastoma / Wilms tumour
Jan 05, 2026
Rett Syndrome
Jan 05, 2026
Aneurysmal Subarachnoid Hemorrhage
Jan 05, 2026
KAT6A syndrome / Arboleda-Tham Syndrome (ARTHS)
Jan 05, 2026
Gorham-Stout disease
Jan 05, 2026
Benign Paroxysmal Torticollis (BPT)
Jan 05, 2026
Partial Deep Dermal and Full Thickness Burns
Jan 05, 2026
Von Willebrand disease (VWD)
Jan 05, 2026
Non-Syndromic Metopic Craniosynostosis
Dec 30, 2025
Mayer-Rokitansky-Küster-Hauser (MRKH) Syndrome
Dec 30, 2025
Neuroblastoma
Dec 30, 2025
Hemophilia A
Dec 30, 2025
Phenylketonuria (PKU)
Dec 30, 2025
Omphalocele
Dec 30, 2025
Multiple Myeloma
Dec 30, 2025
Huntington’s Disease (HD)
Dec 30, 2025
Medium-chain acyl-coenzyme A dehydrogenase deficiency (MCADD)
Dec 30, 2025
Small Cell Lung Cancer (SCLC)
Dec 30, 2025
Blastic Plasmacytoid Dendritic Cell Neoplasm (BPDCN)
Dec 30, 2025
Stickler Syndrome
Dec 30, 2025
Steinert Myotonic Dystrophy
Dec 30, 2025
Hypermobile Ehlers-Danlos Syndrome (hEDS)
Dec 30, 2025
Addison Disease
Dec 30, 2025
Triploidy
Dec 30, 2025
Mucolipidosis Types II and III (ML II/III)
Dec 30, 2025
Gastrointestinal Stromal Tumours (GISTs)
Dec 30, 2025
Pleural Empyema
Dec 30, 2025
Bronchopulmonary Dysplasia (BPD)
Dec 30, 2025
Stargardt Disease (STGD1)
Dec 30, 2025
Supravalvular Aortic Stenosis (SVAS) & Williams Syndrome
Dec 30, 2025
Holoprosencephaly (HPE)
Dec 30, 2025
Cystinuria
Dec 30, 2025
Idiopathic Intracranial Hypertension (IIH)
Dec 30, 2025
Progressive Supranuclear Palsy (PSP)
Dec 28, 2025
Thyroid Ectopia
Dec 28, 2025
Dentinogenesis Imperfecta (DGI)
Dec 27, 2025
Atopic Keratoconjunctivitis (AKC)
Dec 27, 2025
Familial Cerebral Cavernous Malformations (CCMs)
Dec 27, 2025
Lennox-Gastaut Syndrome (LGS)
Dec 27, 2025
Early and Young Onset Parkinson’s Disease (EOPD / YOPD)
Dec 27, 2025
Hirschsprung Disease
Dec 27, 2025
Systemic Sclerosis (SSc)
Dec 27, 2025
The Ear: Microtia, Atresia, Hemifacial Microsomia and Goldenhar Syndrome
Dec 27, 2025
Thromboangiitis Obliterans (Buerger’s disease)
Dec 27, 2025
Primary Membranoproliferative Glomerulonephritis (MPGN)
Dec 27, 2025
Hereditary Hemorrhagic Telangiectasia (HHT)
Dec 27, 2025
Acute Peripheral Arterial Occlusion
Dec 27, 2025
X-linked Ichthyosis (XLI)
Dec 27, 2025
Trisomy 18 / Edwards Syndrome
Dec 27, 2025
Gastroschisis
Dec 27, 2025
Familial Isolated Dilated Cardiomyopathy
Dec 27, 2025
Hypoplastic Left Heart Syndrome
Dec 27, 2025
Pemphigus Vulgaris
Dec 27, 2025
Adenovirus in Transplant Patients
Dec 27, 2025
Anal Fistula & Anorectal Malformations (ARM) ~ VACTERL Association
Dec 27, 2025
Biliary Atresia (BA)
Dec 27, 2025
Non-Syndromic Hypospadias
Dec 27, 2025
Cystic Fibrosis (CF)
Dec 27, 2025
Brugada Syndrome
Dec 27, 2025
Vulvar Intraepithelial Neoplasia (VIN)
Dec 27, 2025
Limbal Stem Cell Deficiency (LSCD)
Dec 27, 2025
Congenital Sucrase Isomaltase Deficiency
Dec 23, 2025
Marfan Syndrome
Dec 23, 2025
Myasthenia Gravis (MG)
Dec 23, 2025
Alpha-1-Antitrypsin Deficiency
Dec 23, 2025
Tenosynovial Giant Cell Tumor (TGCT)
Dec 23, 2025
Spinal Muscular Atrophy (SMA)
Dec 23, 2025
Sarcoidosis
Dec 23, 2025
HIV/AIDS Wasting Syndrome
Dec 23, 2025
Juvenile Idiopathic Arthritis (JIA)
Dec 23, 2025
Chromosome Y Microdeletion
Dec 23, 2025
Pouchitis
Dec 23, 2025
Pulmonary Fungal Infections in patients Deemed at Risk
Dec 23, 2025
Scarring in Glaucoma Filtration Surgical Procedures
Dec 23, 2025
Multicystic Dysplastic Kidney (MCDK)
Dec 23, 2025
Autoimmune Hepatitis (AIH)
Dec 23, 2025
Proximal 16p11.2 Microdeletion
Dec 23, 2025
Congenitally Un-/Corrected Transposition of the Great Arteries
Dec 23, 2025
Esophageal Atresia
Dec 23, 2025
Neovascular Glaucoma (NVG)
Dec 23, 2025
Secondary Hypoparathyroidism due to Impaired Parathormone Secretion
Dec 23, 2025
Primary Biliary Cholangitis (PBC) vs. Primary Sclerosing Cholangitis (PSC)
Dec 23, 2025
Immune Thrombocytopenia (ITP)
Dec 23, 2025
Alopecia Areata & Universalis
Dec 23, 2025
Bullous Pemphigoid
Dec 18, 2025
Syndactyly Type 1 (SD1)
Dec 18, 2025
Thyroid Hemiagenesis / Dysgenesis
Dec 18, 2025
Cytomegalovirus in Impaired Cell Mediated Immunity
Dec 18, 2025
Post-Transplant Lymphoproliferative Disorder (PTLD)
Dec 18, 2025
Dermatitis Herpetiformis (DH)
Dec 18, 2025
Mucopolysaccharidosis Type IV (Morquio syndrome)
Dec 18, 2025
Central Retinal Vein Occlusion (CRVO)
Dec 18, 2025
Mucolipidosis Type II and III
Dec 18, 2025
Atrioventricular Septal Defect (AVSD)
Dec 18, 2025
Narcolepsy Type 1 (NT1)
Dec 18, 2025
Congenital Diaphragmatic Hernia
Dec 18, 2025
Primary Systemic Amyloidosis
Dec 18, 2025
Idiopathic Hypersomnia
Dec 18, 2025
Peripartum Cardiomyopathy
Dec 18, 2025
Polycythemia Vera
Dec 18, 2025
Retinitis Pigmentosa
Dec 18, 2025
Sepsis in Premature Infants
Dec 18, 2025
Spinal Cord Injury
Dec 18, 2025
Fragile X Syndrome
Dec 16, 2025
Placental Insufficiency (PI)
Dec 16, 2025
Congenital Toxoplasmosis (CTX)
Dec 16, 2025
Neurofibromatosis Type 1 (NF1)
Dec 16, 2025
Tetralogy of Fallot (TOF)
Dec 16, 2025
Isolated Anencephaly and Exencephaly
Dec 16, 2025
Osteochondritis Dissecans (OD)
Dec 16, 2025
Radiation Proctitis
Dec 16, 2025
Uremic Pruritus / Chronic Kidney Disease-Associated Pruritus (CKD-aP)
Dec 16, 2025
Coarctation of the Aorta (CoA)
Dec 16, 2025
High-grade Dysplasia in Patients with Barrett Esophagus
Dec 16, 2025
Non-Papillary Transitional Cell Carcinoma / Carcinoma in Situ (CIS) of the Bladder
Dec 16, 2025
Hanta-Virus / Hemorrhagic Fever-Renal Syndrome
Dec 16, 2025
Follicular Lymphoma (FL)
Dec 16, 2025
22q11.2 Deletion / DiGeorge Syndrome
Dec 16, 2025
Moderate to Severe Traumatic Brain Injury (TBI)
Dec 16, 2025
Autosomal Dominant Polycystic Kidney Disease (ADPKD)
Dec 16, 2025
Romano-Ward / a Long QT Syndrome (LQTS)
Dec 16, 2025
Congenital Cytomegalovirus (cCMV)
Dec 15, 2025
Cardiogenic Shock
Dec 15, 2025
Hepatitis Delta Virus (HDV)
Dec 15, 2025
Sudden Sensorineural Hearing Loss (SSNHL)
Dec 15, 2025
Non-Immune Hydrops Fetalis (NIHF)
Dec 15, 2025
47, XXX Triple X / Trisomy X Syndrome
Dec 15, 2025
Renal Dysplasia / Congenital Anomaly of Kidney and Urinary Tract (CAKUT)
Dec 15, 2025
Systemic Lupus Erythematosus (SLE)
Dec 15, 2025
Asherman Syndrome / Intrauterine Adhesions (IUA)
Dec 14, 2025
Preeclampsia (PE)
Dec 14, 2025
Necrotizing Enterocolitis (NEC)
Dec 14, 2025
Chronic Lymphocytic Leukemia (CLL)
Dec 14, 2025
Sjögren Disease (SjD) / Syndrome
Dec 12, 2025
Congenital Bilateral Absence of the Vas Deferens (CBAVD)
Dec 12, 2025
Iniencephaly
Dec 12, 2025
47, XYY or Jacobs Syndrome
Dec 12, 2025
Unilateral Renal Agenesis
Oct 15, 2025
Prolactinoma
Oct 07, 2025
Fetal and neonatal alloimmune thrombocytopenia (FNAIT)
Oct 04, 2025
Cleft palate/lip
Oct 04, 2025
Down Syndrome (DS), Trisomy 21
Sep 29, 2025