Specialist centres (B centres) for rare diseases

The ZSE Ulm has the following specialist centres that deal with specific rare diseases.

Centre for Rare Neurological Diseases (ZSNE)

  • Degenerative diseases of the CNS
  • Inflammatory diseases of the nervous system
  • Rare seizure disorders and phacomatoses
  • Neuronal channelopathies
  • Microdeletion syndrome
  • Vascular diseases
  • Myopathies
  • Spinal muscular atrophies
  • Amyotrophic lateral sclerosis, MND
  • M. Huntington's disease
  • Rare neurodegenerative Parkinson's syndromes
  • Rare forms of dementia, FTLD
  • Rare inflammatory diseases of the nervous system
  • Kennedy syndrome
  • Neurofibromatoses
  • Phelan McDermid syndrome
  • Rare vascular diseases
  • Clinic for Neurology
  • Clinic for Ophthalmology
  • Clinic for Ear, Nose and Throat Medicine
  • Clinic for Internal Medicine I
  • Clinic for Internal Medicine II
  • Clinic for Internal Medicine III
  • Clinic for Paediatrics and Adolescent Medicine
  • Clinic for Child and Adolescent Psychiatry/Psychotherapy
  • Clinic for Neurosurgery
  • Clinic for Orthopaedics
  • Department of Psychiatry and Psychotherapy III
  • Clinic for Urology
  • Institute of Human Genetics

Centre for Rare Neuromuscular Diseases (ZSNME)

  • Degenerative diseases of the CNS
  • Spinal muscular atrophies
  • Myopathies
  • Amyotrophic lateral sclerosis, MND
  • Rare myopathies
  • Malignant hyperthermia
  • Clinic for Neurology
  • Clinic for Ophthalmology
  • Clinic for Ear, Nose and Throat Medicine
  • Clinic for Internal Medicine I
  • Clinic for Internal Medicine II
  • Clinic for Internal Medicine III
  • Clinic for Paediatrics and Adolescent Medicine
  • Clinic for Child and Adolescent Psychiatry/Psychotherapy
  • Clinic for Neurosurgery
  • Clinic for Orthopaedics
  • Department of Psychiatry and Psychotherapy III
  • Clinic for Urology

Centre for Rare Heart Diseases (ZSH)

  • Profilbild von Prof. Dr. Wolfgang Rottbauer

    Prof. Dr. Wolfgang Rottbauer

    Ärztlicher Direktor der Klinik für Innere Medizin II

  • Profilbild von Dr. med. Michael Radermacher

    Dr. med. Michael Radermacher

    Facharzt für Innere Medizin und Kardiologie

    Schwerpunkte

    Zusatzbezeichnung Kardio-​MRT
    Zusatzqualifikation Kardiale Magnetresonanztomographie (CMR) Level III

  • Dilated cardiomyopathies
  • Hypertrophic cardiomyopathies
  • Arrhythmogenic right ventricular cardiomyopathy
  • Tako-Tsubo cardiomyopathy
  • Peripartum cardiomyopathy
  • Syndromes with susceptibility to malignant ventricular arrhythmias
  • Rare benign ventricular arrhythmias
  • Rare supraventricular arrhythmias
  • Congenital heart defects
  • Skeletal muscle diseases and other neurological diseases with cardiac involvement
  • Rare cardiac tumours
  • Pulmonary hypertension
  • Clinic for Internal Medicine II of the Centre for Internal Medicine
  • Clinic for Paediatrics and Adolescent Medicine
  • Clinic for Neurology

Centre for Rare Endocrine Diseases (ZSEE)

  • Profilbild von Prof. Dr. Martin Wabitsch

    Prof. Dr. Martin Wabitsch

    Vorstandsvorsitzender des Zentrums für Seltene Erkrankungen (ZSE) Ulm; Leiter Sektion Pädiatrische Endokrinologie und Diabetologie

  • Profilbild von Univ.-Prof. Dr. Martin Heni

    Univ.-Prof. Dr. Martin Heni

    Leiter der Sektion für Endokrinologie und Diabetologie

  • Profilbild von Dr. Julia von Schnurbein

    Dr. Julia von Schnurbein

    Fachärztin; Klinik für Kinder- und Jugendmedizin

    Schwerpunkte

    Kinder-Endokrinologie und -Diabetologie

  • Profilbild von Dr. med. Johanna Backhus

    Dr. med. Johanna Backhus

    Fachärztin für Innere Medizin und Gastroenterologie

    Schwerpunkte

    Hepatologie

  • Differences of sex development (DSD)
  • Growth disorder - short stature
  • Growth disorder - tall stature
  • Puberty development disorders
  • Disorders of weight regulation
  • Disorders of the function of the pituitary gland, hypothalamus and CNS
  • Disorders of thyroid function
  • Disorders of adrenal gland function
  • Disorders of testicular function and the male genitalia
  • Disorders of ovarian function and female sexual characteristics
  • Disorders of glucose and triglyceride metabolism
  • Disorders of bone metabolism and calcium/phosphate metabolism
  • Disorders of water regulation
  • Syndromal diseases with endocrine disorders
  • Lipodystrophy diseases
  • Clinic for Paediatrics and Adolescent Medicine
  • Clinic for Internal Medicine I, Centre for Internal Medicine
  • Institute for Human Genetics
  • Department of Surgery I (Paediatric Surgery Section)
  • Central Laboratory for Clinical Chemistry (Hormone Laboratory)

Centre for Rare Skeletal Diseases (ZSSK)

Osteopetrosis

  • Infantile (malignant) osteopetrosis
  • Intermediate osteopetrosis

 

Osteochondrodysplasia and skeletal developmental disorders

  • Osteogenesis imperfecta
  • Achondroplasia
  • Spondyloepiphyseal dysplasia
  • Multiple epiphyseal dysplasia
  • Metaphyseal dysplasia
  • Multiple cartilaginous exostoses

 

Tooth and jaw malformations

  • Oligodontia, anodontia
  • Diseases of the dental hard tissues:
    • (amelogenesis imperfecta, dentinogenesis
    • imperfecta, amelogenesis imperfecta-gingival
    • hyperplasia syndrome, dentin dysplasia,
    • Dentinogenesis imperfecta-short stature-hearing
    • loss- intellectual disability syndrome )
  • Dental ankyloses
  • Cleft palate
  • Apert syndrome
  • Pfeiffer syndrome
  • Orthopaedic University Hospital Ulm at the RKU
  • Clinic for Paediatrics and Adolescent Medicine
  • Clinic for Conservative Dentistry and Periodontology
  • Clinic for Dental Prosthetics
  • Clinic for Oral and Maxillofacial Surgery
  • Clinic for Orthodontics and Orthodontics

Centre for Rare Tumour Diseases & Tumour Susceptibility (ZSTETS)

  • Profilbild von Prof. Dr. Thomas Seufferlein

    Prof. Dr. Thomas Seufferlein

    Ärztlicher Direktor der Klinik für Innere Medizin I

  • Profilbild von Dr. med. Johanna Backhus

    Dr. med. Johanna Backhus

    Fachärztin für Innere Medizin und Gastroenterologie

    Schwerpunkte

    Hepatologie

  • Malignant neoplasms of the gastrointestinal tract
  • Neoplasms of endocrine and neuroendocrine organs
  • Haematological neoplasms
  • Sarcomas and testicular tumours
  • Genetic tumour susceptibility syndromes
  • Clinic for Internal Medicine I of the Centre for Internal Medicine
  • Clinic for Internal Medicine III of the Centre for Internal Medicine
  • Clinic for Paediatrics and Adolescent Medicine
  • Clinic for Gynaecology and Obstetrics
  • Clinic for Ear, Nose and Throat Medicine
  • Institute of Human Genetics at Ulm University Hospital
  • Institute of Pathology
  • Comprehensive Cancer Centre Ulm (CCCU)

Centre for Rare Skin Diseases (ZSD)

  • Systemic sclerosis
  • Familial lupus erythematosus
  • Hereditary angioedema
  • Scleredema adultorum Buschke
  • Clinic for Dermatology and Allergology
  • Clinic for Ear, Nose and Throat Medicine
  • Clinic for Dental Prosthetics

Centre for Rare Disorders of Haematopoiesis and Immunodeficiencies (ZSHI)

  • Profilbild von Prof. Dr. Holger Cario

    Prof. Dr. Holger Cario

    Oberarzt Kinder-Hämatologie und –Onkologie; Sprecher d. Zentrums f. Seltene Störungen der Hämatopoese und Immundefekte (ZSHI Ulm); Leiter des Hämoglobinlabors

  • Profilbild von Prof. Dr. Ansgar Schulz

    Prof. Dr. Ansgar Schulz

    Oberarzt Kinder-Hämatologie und -Onkologie

  • Profilbild von Dr. Yvonne Pritschow

    Dr. Yvonne Pritschow

    Fachärztin für Kinder-und Jugendmedizin

Haematopoiesis disorders

  • Thalassaemias
  • Sickle cell disease
  • Paroxysmal nocturnal haemoglobinuria
  • Congenital aplastic anaemia
  • Acquired aplastic anaemia
  • Ery membrane defects
  • Congenital erythrocytosis
  • Hereditary thrombocytosis
  • Myeloproliferative diseases
  • Autoimmune haemolytic anaemia
  • Autoimmune thrombocytopenia
  • Rare iron and vitamin metabolism disorders
  • Ery enzyme defects
  • Haemolytic uraemic syndrome, atyp.
  • Hereditary sideroblastic anaemia
  • Congenital dyserythropoietic anaemias
  • Congenital methaemoglobinaemias

 

Immunodeficiencies

 

Diagnosis and treatment of immunodeficiency diseases and congenital bone marrow disorders

  • SCID (Omenn syndrome, ADA deficiency, PNP deficiency, ZAP70 defect, MHC°II defect / bare lymphocyte syndromes, reticular dysgenesis)
  • CVID and antibody deficiency syndromes, Bruton's disease
  • Wiskott-Aldrich syndrome (WAS)
  • Septic granulomatosis / CGD syndrome, Purtillo syndrome, hyper-IgM syndrome
  • Osteopetrosis


Diagnosis and treatment of children with rheumatological and autoinflammatory diseases

  • Diseases of the joint apparatus (e.g. juvenile idiopathic arthritis)
  • Diseases of the connective tissue (collagenoses, e.g. dermatomyositis, lupus erythematosus)
  • Diseases of the blood vessels (vasculitis)
  • periodic fever syndromes (PFAPA syndrome, familial Mediterranean fever, hyper-IgD syndrome, TRAPS, cyclic neutropenia, HLH)
  • Clinic for Paediatrics and Adolescent Medicine
  • Clinic for Internal Medicine III of the Centre for Internal Medicine
  • Institute for Transfusion Medicine / Institute for Clinical Transfusion Medicine and Immunogenetics Ulm
  • Institute of Human Genetics at Ulm University Hospital

Centre for Rare Liver, Intestinal and Pancreatic Diseases (ZSLDPE)

  • Profilbild von Prof. Dr. rer. med. Alexander Kleger

    Prof. Dr. rer. med. Alexander Kleger

    Leiter Pankreatologie Stellvertretender Leiter Internistische Notaufnahme- und Intermediate-Care-Station M1b

  • Profilbild von Dr. med. Johanna Backhus

    Dr. med. Johanna Backhus

    Fachärztin für Innere Medizin und Gastroenterologie

    Schwerpunkte

    Hepatologie

  • Alagille syndrome
  • Familial cholestasis diseases
  • Budd-Chiari syndrome
  • Caroli disease
  • Cholangitis, primary biliary
  • Hepatitis D
  • Hepatitis, autoimmune chronic
  • Hepatic vein occlusive disease
  • Liver disease, isolated polycystic
  • Primary sclerosing cholangitis
  • Wilson's disease
  • Recurrent hepatitis C virus-induced liver disease
  • in liver transplant patients
  • Cholangitis and pancreatitis, follicular
  • Hypereosinophilic syndromes
  • Pancreatitis, acute recurrent
  • Pancreatitis, chronic hereditary
  • IgG 4 associated diseases / pancreatitis
  • Pancreas anulare
  • Achalasia, idiopathic
  • Triple A syndrome
  • Eosinophilic oesophagitis
  • Eosinophilic gastroenteritis
  • Eosinophilic colitis
  • Short bowel syndrome
  • Hirschsprung's disease
  • Chronic intestinal pseudo-obstruction (CIPO)
  • Gastroschisis
  • Omphalocele
  • Anal atresia
  • Oesophageal atresia
  • Duodenal stenosis
  • Genetic intractable diarrhoea of infancy
  • Congenital chloride diarrhoea
  • Rare inflammatory bowel diseases
  • Severe immune-mediated enteropathy
  • IL 10 -associated early childhood inflammatory bowel disease
  • Non-classifiable colitis
  • Clinic for Paediatrics and Adolescent Medicine
  • Clinic for Internal Medicine I of the Centre for Internal Medicine
  • Department of Surgery I at Ulm University Hospital with Paediatric Surgery Section