All Episodes

Cone-Rod Dystrophy

46,XX Ovotesticular Difference of Sex Development

Diffuse Palmoplantar Keratoderma, Bothnian Type

Gitelman Syndrome

Oculocutaneous Albinism Type 1

Leber Congenital Amaurosis

Pseudoxanthoma Elasticum

Isolated Radial Hemimelia

Oculocutaneous Albinism Type 2

Meckel-Gruber Syndrome

3-Methylcrotonyl-CoA Carboxylase Deficiency

Autoimmune Pulmonary Alveolar Proteinosis

Leigh Syndrome

Achromatopsia

Congenitally corrected transposition of the great arteries (ccTGA)

Fecal Incontinence Following Ileal Pouch-Anal Anastomosis

Hereditary Multiple Osteochondromas (HMO)

Toxic shock syndrome (TSS)

Pompe Disease, Glycogen Storage Disease Type II (Acid Maltase Deficiency)

Methotrexate Toxicity

Malaria (as of 2025)

Saethre-Chotzen Syndrome, Syndromic Craniosynostosis

Myelofibrosis

Adult T-cell leukaemia/lymphoma (ATL)

Skeletal Dysplasia (Hypochondroplasia and Achondroplasia)

Hemophilia B

Bladder Extrophy

Kabuki Syndrome

Prader-Willi syndrome (PWS)

Still Disease / Systemic Juvenile Idiopathic Arthritis (sJIA), macrophage activation syndrome (MAS)

Immune Mediated Peripheral Neuropathies (acute AIPD, chronic CIPD), incl. Gullain-Barré Syndrome (GBS)

Polyarteritis Nodosa (PAN)

Gastrointestinal Neuroendocrine Tumors

Primary Carnitine Deficiency

Acatalasemia

Dravet Syndrome

Multiple Endocrine Neoplasia type 1 (MEN1)

Achondroplasia and Pseudoachondroplasia

Inverted Duplicated / Isodicentric Chromosome 15 Syndrome

Muenke Syndrome (Apert and Crouzon Syndrome )

Darier’s Disease

Beckwith-Wiedemann Syndrome (BWS)

Ebstein’s Anomaly

Thanatophoric Dysplasia

Sturge-Weber Syndrome (SWS)

Mantle Cell Lymphoma (MCL)

Hereditary Neuropathy with liability to Pressure Palsies (HNPP)

Antisynthetase syndrome

Multiple System Atrophy (MSA)

Chronic Inflammatory Demyelinating Polyradiculoneuropathy (CIDP)

Worster-Drought Syndrome

Smith-Lemli-Opitz syndrome

Kallmann Syndrome / Congenital Hypogonadotropic Hypogonadism

Kennedy’s disease (SBMA)

Interstitial lung diseases (ILD)

Amyotrophic Lateral Sclerosis (ALS)

Porphyria Cutanea Tarda (PCT)

Arginine vasopressin deficiency (AVP-D)

Congenital lobar emphysema (CLE / CPAM)

Williams syndrome and Supravalvular Aortic Stenosis (SVAS)

MALT Lymphoma

Bardet-Biedl and Meckel-Gruber Ciliopathies

Merkel Cell Carcinoma

Pallister-Killian syndrome

Familial Thyroid Dyshormonogenesis

Posterior urethral valves (PUV)

Achondroplasia

Common Arterial Trunk / Truncus Arteriosus

Tritanopia / colour vision deficiency (CVD)

Colonic Atresia

Neurotrophic Keratopathy (NK)

Hartnup Disease

Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis

Herpes Simplex Virus Stromal Keratitis

Microscopic Polyangiitis / ANCA-associated vasculitis (AAV)

Leber Hereditary Optic Neuropathy (LHON)

Arthrogryposis Multiplex Congenita (AMC)

Enlarged Parietal Foramina (EPF)

Facioscapulohumeral Muscular Dystrophy (FSHD)

Congenital Heart Block (CHB)

Achondroplasia

Medullary Thyroid Cancer (MTC)

Graft-Versus-Host Disease (GVHD)

Hereditary Fructose Intolerance (HFI) (not fructose malabsorption!)

Albers Schönberg Osteopetrosis

AL-Amyloidosis

Pierre Robin Sequence

Pyruvate Kinase (PK) Deficiency

X-linked retinoschisis (XLRS) & autosomal recessive bestrophinopathy

Sanfilippo Syndrome / Mucopolysaccharidosis Type III

Amyotrophic Lateral Sclerosis (ALS)

Primary Mediastinal B-cell Lymphoma (PMBCL)

Progressive Supranuclear Palsy (PSP)

Split-hand/foot malformation (SHFM) / Ectrodactyly

Turner Syndrome

Familial Hypocalciuric Hypercalcaemia (FHH)

Smith-Magenis Syndrome (SMS)

Tricuspid Atresia

Familial Adenomatous Polyposis (FAP)

Enthesitis-related Arthritis (ERA)

Short-lasting Unilateral Neuralgiform headache attacks (SUNHA), which include SUNCT and SUNA

Benign Schwannoma

Infantile Epileptic Spasm Syndrome (IESS)

Non-Tuberculous mycobacteria (NTM)

Cerebral Arteriovenous Malformation

Chronic Myeloid Leukemia (CML)

Tibial Muscular Dystrophy (TMD)

Fryns Syndrome

Retinoblastoma

Wilson Disease

VATER/VACTERL Association

CHARGE Syndrome

Cat Scratch Disease

Fabry Disease

Ectodermal Dysplasia

Iminoglycinuria

Pendred Syndrome

Idiopathic Inflammatory Myopathies (IIM)

Sotos Syndrome

Single Ventricle Heart Disease

Laryngeal Clefts & VACTERL Association

Congenital Adrenal Hyperplasia (CAH) / 21-Hydroxylase Deficiency

Angelman Syndrome

Dermatomyositis &  Idiopathic Inflammatory Myopathies (IIM)

Sporadic Adult-Onset Ataxia (SAOA)

Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD)

Juvenile Idiopathic Arthritis (JIA)

Achalasia

Congenital Adrenal Hyperplasia (CAH) & Adrenal Hypoplasia Congenita (AHC)

Osteogenesis Imperfecta (OI)

Congenital Pulmonary Airway Malformation (CPAM)

Apnea of Prematurity

Intestinal Atresia / small bowel atresia

Duodenal atresia / congenital duodenal obstruction

Granulomatosis with Polyangiitis (GPA), ANCA associated vasculitis (AAV)

Gardner Syndrome (APC-Gene Mutation)

Total Anomalous Pulmonary Venous Connection / Return (TAPVC / TAPVR)

Duchenne Muscular Dystrophy

Aplasia Cutis Congenita

Sickle Cell Disease (SCD) / Anemia

Duane Retraction Syndrome (DRS)

Dermatofibrosarcoma protuberans (DFSP)

Septo-Optic Dysplasia (SOD)

Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT)

Dysbetalipoproteinemia / Type 3 Hyperlipoproteinemia

Aicardi-Goutières Syndrome (AGS)

Hemiplegic Migraine (HM)

Nephroblastoma / Wilms tumour

Rett Syndrome

Aneurysmal Subarachnoid Hemorrhage

KAT6A syndrome / Arboleda-Tham Syndrome (ARTHS)

Gorham-Stout disease

Benign Paroxysmal Torticollis (BPT)

Partial Deep Dermal and Full Thickness Burns

Von Willebrand disease (VWD)

Non-Syndromic Metopic Craniosynostosis

Mayer-Rokitansky-Küster-Hauser (MRKH) Syndrome

Neuroblastoma

Hemophilia A

Phenylketonuria (PKU)

Omphalocele

Multiple Myeloma

Huntington’s Disease (HD)

Medium-chain acyl-coenzyme A dehydrogenase deficiency (MCADD)

Small Cell Lung Cancer (SCLC)

Blastic Plasmacytoid Dendritic Cell Neoplasm (BPDCN)

Stickler Syndrome

Steinert Myotonic Dystrophy

Hypermobile Ehlers-Danlos Syndrome (hEDS)

Addison Disease

Triploidy

Mucolipidosis Types II and III (ML II/III)

Gastrointestinal Stromal Tumours (GISTs)

Pleural Empyema

Bronchopulmonary Dysplasia (BPD)

Stargardt Disease (STGD1)

Supravalvular Aortic Stenosis (SVAS) & Williams Syndrome

Holoprosencephaly (HPE)

Cystinuria

Idiopathic Intracranial Hypertension (IIH)

Progressive Supranuclear Palsy (PSP)

Thyroid Ectopia

Dentinogenesis Imperfecta (DGI)

Atopic Keratoconjunctivitis (AKC)

Familial Cerebral Cavernous Malformations (CCMs)

Lennox-Gastaut Syndrome (LGS)

Early and Young Onset Parkinson’s Disease (EOPD / YOPD)

Hirschsprung Disease

Systemic Sclerosis (SSc)

The Ear: Microtia, Atresia, Hemifacial Microsomia and Goldenhar Syndrome

Thromboangiitis Obliterans (Buerger’s disease)

Primary Membranoproliferative Glomerulonephritis (MPGN)

Hereditary Hemorrhagic Telangiectasia (HHT)

Acute Peripheral Arterial Occlusion

X-linked Ichthyosis (XLI)

Trisomy 18 / Edwards Syndrome

Gastroschisis

Familial Isolated Dilated Cardiomyopathy

Hypoplastic Left Heart Syndrome

Pemphigus Vulgaris

Adenovirus in Transplant Patients

Anal Fistula & Anorectal Malformations (ARM) ~ VACTERL Association

Biliary Atresia (BA)

Non-Syndromic Hypospadias

Cystic Fibrosis (CF)

Brugada Syndrome

Vulvar Intraepithelial Neoplasia (VIN)

Limbal Stem Cell Deficiency (LSCD)

Congenital Sucrase Isomaltase Deficiency

Marfan Syndrome

Myasthenia Gravis (MG)

Alpha-1-Antitrypsin Deficiency

Tenosynovial Giant Cell Tumor (TGCT)

Spinal Muscular Atrophy (SMA)

Sarcoidosis

HIV/AIDS Wasting Syndrome

Juvenile Idiopathic Arthritis (JIA)

Chromosome Y Microdeletion

Pouchitis

Pulmonary Fungal Infections in patients Deemed at Risk

Scarring in Glaucoma Filtration Surgical Procedures

Multicystic Dysplastic Kidney (MCDK)

Autoimmune Hepatitis (AIH)

Proximal 16p11.2 Microdeletion

Congenitally Un-/Corrected Transposition of the Great Arteries

Esophageal Atresia

Neovascular Glaucoma (NVG)

Secondary Hypoparathyroidism due to Impaired Parathormone Secretion

Primary Biliary Cholangitis (PBC) vs. Primary Sclerosing Cholangitis (PSC)

Immune Thrombocytopenia (ITP)

Alopecia Areata & Universalis

Bullous Pemphigoid

Syndactyly Type 1 (SD1)

Thyroid Hemiagenesis / Dysgenesis

Cytomegalovirus in Impaired Cell Mediated Immunity

Post-Transplant Lymphoproliferative Disorder (PTLD)

Dermatitis Herpetiformis (DH)

Mucopolysaccharidosis Type IV (Morquio syndrome)

Central Retinal Vein Occlusion (CRVO)

Mucolipidosis Type II and III

Atrioventricular Septal Defect (AVSD)

Narcolepsy Type 1 (NT1)

Congenital Diaphragmatic Hernia

Primary Systemic Amyloidosis

Idiopathic Hypersomnia

Peripartum Cardiomyopathy

Polycythemia Vera

Retinitis Pigmentosa

Sepsis in Premature Infants

Spinal Cord Injury

Fragile X Syndrome

Placental Insufficiency (PI)

Congenital Toxoplasmosis (CTX)

Neurofibromatosis Type 1 (NF1)

Tetralogy of Fallot (TOF)

Isolated Anencephaly and Exencephaly

Osteochondritis Dissecans (OD)

Radiation Proctitis

Uremic Pruritus / Chronic Kidney Disease-Associated Pruritus (CKD-aP)

Coarctation of the Aorta (CoA)

High-grade Dysplasia in Patients with Barrett Esophagus

Non-Papillary Transitional Cell Carcinoma / Carcinoma in Situ (CIS) of the Bladder

Hanta-Virus / Hemorrhagic Fever-Renal Syndrome

Follicular Lymphoma (FL)

22q11.2 Deletion / DiGeorge Syndrome

Moderate to Severe Traumatic Brain Injury (TBI)

Autosomal Dominant Polycystic Kidney Disease (ADPKD)

Romano-Ward / a Long QT Syndrome (LQTS)

Congenital Cytomegalovirus (cCMV)

Cardiogenic Shock

Hepatitis Delta Virus (HDV)

Sudden Sensorineural Hearing Loss (SSNHL)

Non-Immune Hydrops Fetalis (NIHF)

47, XXX Triple X / Trisomy X Syndrome

Renal Dysplasia / Congenital Anomaly of Kidney and Urinary Tract (CAKUT)

Systemic Lupus Erythematosus (SLE)

Asherman Syndrome / Intrauterine Adhesions (IUA)

Preeclampsia (PE)

Necrotizing Enterocolitis (NEC)

Chronic Lymphocytic Leukemia (CLL)

Sjögren Disease (SjD) / Syndrome

Congenital Bilateral Absence of the Vas Deferens (CBAVD)

Iniencephaly

47, XYY or Jacobs Syndrome

Unilateral Renal Agenesis

Prolactinoma

Fetal and neonatal alloimmune thrombocytopenia (FNAIT)

Cleft palate/lip

Down Syndrome (DS), Trisomy 21