Overview Academic Centers of Excellence

The Erasmus MC is proud to be able to support and treat patients with complex and rare diseases that require special expertise and care. This page grants an overview of the Academic Centers of Excellence (ACE) that preside over the fields of expertise in rare diseases.

Center for Lysosomal and Metabolic Diseases

  • Mucopolysaccharidosis
  • Neuronal ceroid lipofuscinosis
  • Glycoproteinosis
  • Disorder of lysosomal amino acid transport
  • Sphingolipidosis
  • Primary bone dysplasia with defective bone mineralization

Dutch Porphyria Center

  • Porphyria
  • Erythropoietic protoporphyria
  • Acute hepatic porphyria

Center for PKU, urea cycle disorders and organic acidurias

  • Disorder of urea cycle metabolism and ammonia detoxification
  • Disorder of branched-chain amino acid metabolism

NeMo Center – Expert Center for Neuromuscular and Mitochondrial Diseases

Center for Neuro-inflammatory disorders

  • Paraneoplastic neurologic syndrome
  • Postinfectious encephalitis
  • Limbic encephalitis
  • Inflammatory and autoimmune disease with epilepsy
  • Morvan syndrome
  • Isaac syndrome

Pompe Center

  • Glycogen storage disease due to acid maltase deficiency – infantile onset
  • idem – juvenile onset
  • idem- adult onset

Neuromuscular Center Erasmus MC

  • Neuromuscular disease
  • Guillain-Bar syndrome
  • Chronic inflammatory demyelinating polyneuropathy

MS Center (Multiple Sclerosis)

  • Neuromyelitis optica
  • Multiple sclerosis variants

ENCORE – Expertise Center for Neuro-developmental disorders

  • Neurofibromatosis type 1
  • Tuberous sclerosis
  • Angelman syndrome
  • Fragile X syndrome
  • Sturge-Weber syndrome
  • Central nervous system malformation
  • Cardiofaciocutaneous syndrome
  • Costello syndrome

Pick Center

  • Behavioral variant of frontotemporal dementia
  • Semantic dementia
  • Progressive non-fluent aphasia
  • Frontotemporal dementia with motor neuron disease
  • Classical progressive supranuclear palsy
  • Corticobasal degeneration
  • Amyotrophic lateral sclerosis-parkinsonism-dementia complex
  • Transmissible spongiform encephalopathy

Center of Oligodontia

Center for pediatric laryngotracheal stenosis

  • Congenital subglottic stenosis
  • Laryngo-tracheo-esophageal cleft
  • Congenital tracheal stenosis

Erasmus MC Center for endocrine disorders

  • Rare thyroid disease
  • Rare hypothalamic or pituitary disease
  • Rare adrenal disease
  • Endocrine tumor

Hemophilia treatment Center, adult and child

  • Hemophilia
  • Von Willebrand disease
  • Rare hemorrhagic disorder due to a coagulation factors defect, incl FXIII, FXI, FVII,FV deficiency and alpha2-antiplasmin def.
  • Rare hemorrhagic disorder due to a platelet anomaly

Sickle cell Center, adult and child

  • Sickle cell disease and related diseases
  • Beta-thalassemia and related diseases
  • Alpha-thalassemia and related diseases
  • Hemoglobinopathy

Leukemia and Stem cell transplantation Center

  • Myeloid hemopathy
  • Acute lymphoblastic leukemia (adult)

Multiple myeloma treatment Center

  • Multiple myeloma
  • Aggressive B-cell non-Hodgkin lymphoma

Paediatric Brain Tumour Center

  • Rare nervous system tumor

Brain Tumor Center

  • Glial tumor
  • Tumor of the meninges
  • Primary central nervous system lymphoma
  • Primary germ cell tumor of the central nervous system
  • Embryonal tumor of the neuroepithelial tissue
  • Hemangioblastoma
  • Craniopharyngioma
  • Tumor of cranial and spinal nerves

Nasal, Paranasal, Ear and Skull base tumors workgroup

  • Squamous Cell Carcinoma of Head and Neck; tumors arising from the epithelium of the nasal, paranasal and skull base regions
  • Esthesioneuroblastoma

Rotterdam Head and Neck Tumor work group

  • Oral and laryngyal squamous carcinoma (nasopharyngeal carcinoma; malignant epithelial tumor of salivary glands’

Soft tissue sarcoma Center

  • Rare soft tissue tumor

Pediatric Surgical Center for Anatomical Congenital Malformations

  • Congenital and syndromic diaphragmatic hernia
  • Esophageal atresia
  • Hirschsprung disease
  • Anorectal malformation
  • Omphalocele
  • Gastroschisis
  • Intestinal malformation
  • Chronic intestinal failure

Erasmus MC Center for Pancreatic Diseases

  • Hereditary chronic pancreatitis
  • Recurrent acute pancreatitis
  • Autoimmune pancreatitis type 1
  • Autoimmune pancreatitis type 2
  • Pancreatic tumor; familiar pancreascarcinoma
  • Congenital pancreatic cyst

Rotterdam Oesophageal and Gastric Cancer Working Group

  • Esophageal carcinoma; incl. Barrett’s oesophagus
  • Erasmus MC Liver Center
  • Hepatocellular adenoma
  • Adult hepatocellular carcinoma
  • Klatskin tumor

Immunodeficiency Center

  • Primary immunodeficiency (*)

Center for systemic allergic diseases

  • Rare immune disease
  • Systemic mastocytosis

Center of rare skin diseases

  • Netherton syndrome
  • Systemic disease with skin involvement; Suppurative hidradenitis
  • Vascular anomaly or angioma

Center of expertise for Children with Autoimmune Diseases

  • Juvenile idiopathic arthritis

Center for Rare Systemic Immune Disease

  • Uveitis
  • Morbus Sjogren
  • Morbus Behcet
  • Systemic sclerosis

Turner Syndrome Center

Dutch Craniofacial Center

  • Isolated craniosynostosis
  • Syndromic craniosynostosis; craniofrontonasal syndrome
  • Craniofrontonasal dysplasia
  • Rare maxillo-facial surgical disorders (Pierre Robin syndrome associated with branchial archs anomalies)

ErasmusMC Center for Congenital Hand and Upper Limb Malformations

  • Syndrome with limb malformations as a major feature
  • Non-syndromic limb malformation

Expertise Center DSD (Disorder of sex development)

Expert Center spinal disraphism Rotterdam (Spina bifida aperta)

Center for inherited cardiovascular diseases

  • Hypertrophic cardiomyopathy
  • Unclassified cardiomyopathy
  • Rare cardiac disease; rare familial occurrence of thoracic aortic abnormalities incl. dissection with (un)known genetic cause, e.g. Aneurysm-osteoarthritis syndrome

Center for congenital heart diseases Erasmus MC Rotterdam

Expert Center Prader Willi syndrome

  • Chromosomal anomaly
  • Prader Willi syndrome

Expert Center Rare Growth Disorders

  • Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7; also H19 hypomethylation chromosome 11 or unknown
  • Non-acquired pituitary hormone deficiency; not yet known whether or which genes
  • Non-acquired pituitary hormone deficiency; due to known GH gene and yet unknown genetic variants
  • Growth hormone insensitivity syndrome

Expertise Center Erasmus MC Vascular Genetics

  • Homozygous familial hypercholesterolemia
  • Familial lipoprotein lipase deficiency

Erasmus MC Cystic Fibrosis Center

Pulmonary hypertension Center

  • Rare respiratory disease

Interstitial Lung Disease Center

Sarcoidosis Center Erasmus MC

Mesothelioma Center

Center for Bronchopulmonary Dysplasia

Erasmus MC Leprosy Center

Erasmus MC Bone Center

  • Primary bone dysplasia

Center for Pediatric Hematological Malignancies

  • Acute lymphoblastic leukemia
  • Lymphoma; Hodgkin and non-Hodgkin Lymphoma
  • Chronic myeloid leukemia
  • Myelodysplastic syndromes
  • Juvenile myelomonocytic leukemia
  • Acute myeloid leukemia

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