Specialist centres (B centres) for rare diseases

• 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

• 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

• 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

• 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)

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

• 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)

• 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

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

• 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