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)