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)
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)
Prof. Dr. Martin Wabitsch
Vorstandsvorsitzender des Zentrums für Seltene Erkrankungen (ZSE) Ulm; Leiter Sektion Pädiatrische Endokrinologie und Diabetologie
Dr. Julia von Schnurbein
Fachärztin; Klinik für Kinder- und Jugendmedizin
Schwerpunkte
Kinder-Endokrinologie und -Diabetologie
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)
- 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)
Prof. Dr. Holger Cario
Oberarzt Kinder-Hämatologie und –Onkologie; Sprecher d. Zentrums f. Seltene Störungen der Hämatopoese und Immundefekte (ZSHI Ulm); Leiter des Hämoglobinlabors
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)
Prof. Dr. rer. med. Alexander Kleger
Leiter Pankreatologie Stellvertretender Leiter Internistische Notaufnahme- und Intermediate-Care-Station M1b
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