< Back University Hospital Graz Affiliated partner ERNICA Previous Next

< Back Rigshospitalet Copenhagen Denmark This centre has expertise for ERNICA in: Congenital Diaphragmatic Hernia Duodenal And Small Bowel Atresia Esophageal Atresia Gastroschisis Morbus Hirschsprung Necrotizing Enterocolitis Omphalocele Previous Next

< Back JARDIN General Assembly Oct 7, 2025 JARDIN General Assembly The JARDIN General Assembly 2025 will take place from 7–10 October 2025 at the Vilnius Park Plaza Hotel (M. K. Čiurlionio 84, LT-03100 Vilnius, Lithuania) and online. This annual meeting brings together JARDIN participants to review progress on the JARDIN Work Packages, address project-related questions, discuss future plans, and provide networking opportunities. Registration is open via the following link: JARDIN General Assembly 2025 Registration . The deadline for registration is Monday, 22 September 2025 . Previous Next

About ERNICA ERNICA is the E uropean R efence N etwork for rare I nherited and C ongenital (digestive and gastrointestinal) A nomalies. ERNICA is a network of expert multi-disciplinary healthcare professionals from specialised healthcare providers across Europe. The network was officially launched in March 2017. ERNICA is coordinated form Erasmus MC, Rotterdam, the Netherlands. MISSION ERNICA aims to pool together disease-specific expertise, knowledge and resources on rare inherited and congenital anomalies from across Europe to achieve health goals that may otherwise be unachievable in a single country. VISION ERNICA aims to reduce health inequalities across Europe by standardising practices, facilitating research and making high-quality care, information and resources accessible to healthcare providers, patients and their families/carers across Europe, regardless of where they are located. Diagnoses covered by ERNICA Esophageal Diseases Intestinal Diseases Intestinal Failure Gastroenterological Diseases Malformations of the diaphragm and Abdominal Wall Defects European Reference Networks Want to know more about what European Reference Networks (ERNs) are? Click on the button below! Learn more! ERNICA members & partners Want to know more about our different types of memberships and our members and partners ? Click on the button below! Learn more! ERNICA organisation and structure Want to know more about how we are organised and coordinated ? Click on the button below for more information! Learn more! How can ERNICA support me? Want to know more about how we can support you as a patient or as a healthcare professional ? Click on one of the buttons below for more information! Support for patients Support for healthcare professionals ERNICA collaborations and networking partners In pursuing our mission, vision and aims, the ERNICA network works together with other expert rare disease networks. ERNICA is part of the European Rare Disease Research Coordination and Support Action consortium (ERICA ) , in which all 24 ERNs take part, where we work together in all ERNs on research and innovation. Additionally, ERNICA has established a collaboration with the European Journal of Pediatric Surgery (EJPS), which is the official organ of 28 European National Associations of Paediatric Surgery and official journal of the EUPSA and of the Union of European Medical Specialists. As one of the European Reference Networks, ERNICA also monitors and contributes, as requested, to: - The European Rare Diseases Research Alliance (ERDERA). ERDERA proposal was submitted under Horizon Europe on 19 Sept. 2023 for funding under the EU Research & Innovation funding programme Horizon Europe as a co-funded partnership between the European Commission, European Member States, and beyond. - JARDIN , a Joint Action, co-funded by the European Union, created to achieve the integration of European Reference Networks (ERNs) into National Healthcare Systems. JARDIN’s mission and vision are based on “Integration, equity and sustainability”. This Joint Action, is part of a commitment to improve the lives of people, to make the so-called ‘patient journey’ a little easier and more accessible.

< Back CDH International Symposium - 13 - 15 April, Leuven Dec 18, 2025 We are delighted to announce that the next CDH International Symposium will take place in Leuven, Belgium, from April 13 to 15, 2026 . Organized in collaboration with ERNICA , this global gathering will bring together leading experts, clinicians, and researchers to share the latest insights and advancements in the field of congenital diaphragmatic hernia. With ERNICA’s involvement, the symposium will provide a unique platform for international collaboration and innovation, all with the aim of improving outcomes for patients worldwide. More information, including the scientific program, abstract submission, and registration details, is available at www.cdh2026.org . Previous Next

Intestinal Failure care in Finland Where is care provided? Care for intestinal failure is provided in specialized university hospitals under the national health system. Psychological & Social Support Support for patients and parents includes: Psychologist Social worker Psychiatrist or psychiatric nurse Home Parenteral Nutrition (HPN) Fully funded by the national health service Costs and reimbursement Families may be eligible for additional support such as: Parental leave compensation Childcare support Hospital social workers and government agencies help families apply School and education A comprehensive support system is available: Hospital teacher (school and kindergarten) Special education Coordination between hospital school and regular school Neurology/neuropsychology support for assessing learning needs Patient organisations There are unofficial Facebook and WhatsApp groups available for patients. Please check with your hospital to see if they can provide you with the relevant details to join these groups.

< Back Kepler University Hospital Linz Affiliated partner ERNICA Previous Next

Traveling Abroad with Intestinal Failure Are you a patient or family member of a child with intestinal failure who is reliant on total parental nutrition (TPN)? Do you avoid traveling abroad in case of not having access to specialist care at times of need? You are not alone! The 2019 ERNICA annual meeting featured an insightful presentation by two parents of children with intestinal failure, both of whom are reliant on total parenteral nutrition as a method of feeding. They presented their personal challenges in regards to travelling abroad with their children and voiced their concerns about not having access to specialist, emergency care (if needed) whilst abroad. ERNICA recognises these challenges and has developed an online map tool so that you can easily identify specialist centres across Europe that meet the following criteria: Centre has a minimum of 10 (paediatric) patients on long-term home TPV and delivers TPV to these patient Centre can place central venous lines for TPV children. Knowledge of this may help you to prepare for a trip abroad. In 2022 the online map was expanded with information on care for adults. By using the filter on the vacation tool, centers providing for children or adults can be selected. Access the map tool below * Centres will be continually added to the map as and when appropriate. * This tool is for informative purposes only. The purpose is for patients/families/carers to be able to easily identify specialist centres abroad. ERNICA is not responsible for the organisation or provision of care. ERNICA is not an emergency service. ERNICA cannot be contacted to discuss clinical cases outside of the Clinical Patient Management System (CPMS). Search for centre Templates A patient's local healthcare provider can make use of the following templates to provide a record of the medical history/any clinical precautions. These can accompany you on your trip abroad in case emergency care is required. Medical information for travel (for children) (PDF) Accompanying letter (for children) (PDF) Medical information for travel (for adults) (PDF) Accompanying letter (for adults) (PDF) The following TPN checklist can also be used when preparing for your trip abroad. TPN travel checklist (PDF) Centres Select Adults/children Select Country University Children´s Hospital Tübingen Germany Children More info Hospital of Lithuanian University of Health Sciences Kauno Klinikos, Lithuania Lithuania Children More info University of Helsinki Finland Children, Adults More info CHU de Marseille - Hopital de la Timone France Children More info CHU Paris - Hôpital Robert Debré France Children More info CHU Paris - Hôpital Necker-Enfants Malades France Children More info UZ Leuven Belgium Children, Adults More info Children's Hospital Zagreb Croatia Children More info University Hospital Graz Austria Children More info AOP Padua Italy Children, Adults More info Amsterdam University Medical Centre Netherlands Children, Adults More info Karolinska University Hospital Sweden Children, Adults More info La Paz University Hospital, Madrid, Spain Spain Children More info ASST Papa Giovanni XXIII Hospital Italy Children More info Kepler University Hospital Linz, Austria Austria Children More info Radboud University Hospital Nijmegen Netherlands Children, Adults More info CHRU de Lille France Children More info Universitätsmedizin Mannheim Germany Children More info Erasmus Medical Centre Rotterdam Netherlands Children More info

< Back ERNICA-EUPSA study on Healthcare Professionals’ Use and Preferences for PROMs Dec 16, 2025 ERNICA-EUPSA study on Healthcare Professionals’ Use and Preferences for PROMs Are you a healthcare professional (of any discipline!) involved in the management of Esophageal Atresia, Hirschsprung’s disease, Gastroschisis, Omphalocele, Intestinal Atresia, Congenital Diaphragmatic Hernia and/or Necrotizing Enterocolitis? (At any stage of the care pathway: pediatric, transition, adult care). Do you work at a hospital in Europe? Then we invite you to take part in a new online survey study! What’s the survey about? The survey aims to explore the current use (and preferences for the future use) of Patient Reported Outcome Measures (PROMs) for rare digestive and gastrointestinal surgical conditions in Europe. Curious about what PROMs are or to find out more about the survey? Watch our short video to find out more! Key points: You do not need to use PROMs currently to take part – we are also looking to capture if you do not use PROMs/what your preferences are for the future! You do not need to be a PROM specialist to take part This survey is a joint project between ERNICA and the European Pediatric Surgeons’ Association (EUPSA). However, you do not need to be a member of EUPSA or work at an ERNICA member/affiliated partner hospital to contribute. You also do not need to be a pediatric surgeon to contribute, although we welcome responses from this discipline too! Results of this study will help pave the way for future PROM initiatives in this field. Thank you! https://ec.europa.eu/eusurvey/runner/ab576673-d4a4-0a63-11da-de2c664c799f Previous Next

Intestinal diseases ERNICA covers the following diseases within the intestinal diseases working group. Hirschsprung's Disease Due to the absence of nerve cells, the intestine cannot work the stool outwards. Read More Read Less Duodenal atresia and small bowel atresia Is a medical condition where a portion of the bowel is blocked. Read More Read Less Necrotizing Enterocolitis Is a medical condition where a portion of the bowel dies. Read More Read Less Sacrococcygeal teratoma Sacrococcygeal teratoma (SCT) is a tumor that forms on a fetus’ tailbone, also called the coccyx. The tumors are usually not cancerous (benign) but can be life-threatening if not treated. Note: eUROGEN (The European Reference Network for rare and complex urogenital conditions) and ERNICA overlap in clinical scope in regards to Hirschsprung's Disease and Anorectal Malformations. Whilst Hirschsprung's disease is officially covered by ERNICA, Anorectal Malformations are officially covered by eUROGEN. Here you can find the expert coverage for Anorectal Malformations within eUROGEN. Hirschsprung's disease In weeks 5-10 of pregnancy, the nerve cells from the brain gradually grow downward via the oesophagus, stomach, small intestine and large intestine. Sometimes these nerve cells do not reach the very last part of the intestine. This is the case with Hirschsprung's disease, named after the discoverer, the Danish paediatrician Harald Hirschsprung (1830-1916). Due to the absence of nerve cells, the intestine cannot work the stool outwards. The poop accumulates, causing the intestine to expand. Hirschsprung’s disease can sometimes occur in combination with, for example, Down's syndrome. Experts from the ERNICA network have developed a European guideline for the management of rectosigmoid Hirschsprung’s disease patients. Hirschsprung guideline for professionals An ERNICA summary of the guideline for clinicans has also been produced in different languages English Finnish Swedish DIAGNOSTIC METHODS MANAGEMENT & TREATMENT PROGNOSIS Diagnosis is based on suction rectal biopsy of rectal mucosa and submucosa that shows aganglionosis, thickened extrinsic nerve fibers and overexpression of acetylcholinesterase. Recently, it has been shown that calretinin immunohistochemistry is useful. Assessment for associated anomalies allows the detection of syndromic HSCR. Plain abdominal radiography, lower gastrointestinal contrast studies, and ultrasound are useful in excluding alternative diagnoses. Treatment is surgical. It consists in resection of the aganglionic segment together with the transition zone followed by anastomosis of the proximal bowel to the anal margin. Different techniques including minimal invasive surgery as well as transanal surgery are applied. Type of surgery is dependent on the patient, length of aganglionosis and preference of the surgeon. Small bowel aganglionosis can lead to intestinal failure. In case of total intestinal aganglionosis, intestinal transplantation may be required. Overall survival and functional prognosis are good in rectosigmoid or long-segment Hirschsprung, despite issues with constipation and continence even following surgical correction. Functional prognosis of total colonic Hirschsprung's is acceptable. The prognosis for children with small bowel or total intestinal aganglionosis leading to intestinal failure can be poor although intestinal transplantation is attempted to offer long term survival in complicated cases. Hirschsprung enterocolitis occurs in 30-50% of the cases but reacts well to treatment in most cases. Duodenal atresia and small bowel atresia Duodenal atresia Duodenal atresia is the congenital absence or complete closure of a portion of the lumen of the duodenum. It causes increased levels of amniotic fluid during pregnancy (polyhydramnios) and intestinal obstruction in newborn babies. Sometimes there is still a passage to distal, mostly when there is a duodenal web. Intestinal atresia Intestinal atresia is a malformation where there is a narrowing or absence of a portion of the intestine. This defect can either occur in the small or large intestine. The different types of intestinal atresia are named after their location: jejunal-, ileal- and colon atresia. The most common cause of non-duodenal intestinal atresia is a vascular accident in utero that leads to decreased intestinal perfusion and ischemia of the respective bowel segment. This leads to narrowing, or in the most severe cases, complete obliteration of the intestinal lumen. In the case that the superior mesenteric artery, or another major intestinal artery, is occluded, large segments of bowel can be entirely underdeveloped. Classically, the affected area of bowel assumes a spiral configuration and is described to have an "apple peel" like appearance; this is accompanied by lack of a dorsal mesentery. Ileal atresia can also result as a complication of meconium ileus. Necrotizing Enterocolitis Necrotizing enterocolitis (NEC) is a severe medical condition affecting the bowel (intestine). NEC is mostly seen in very preterm born infants. It may also affect term born infants with a medical condition, such as heart disease or abdominal abnormalities. NEC causes an inflammatory process leading to damage of the intestinal tissue. NEC can progress very quickly and can be fatal. In severe cases large parts of the bowel can be affected, potentially leading to parts of the bowel dying (necrosis). The cause of NEC is multifactorial. Underlying mechanisms include intestinal immaturity, abdominal microbial colonization and increased immune reactivity of the intestinal mucosa. Risk factors for NEC include extremely preterm birth, low birth weight and formula feeding. Prevention mainly includes the use of breast milk, supplemented with donor milk, and probiotics. NEC commonly causes intolerance of milk feeds with abdominal pain and distention. Other symptoms may include blood in the stool, vomiting of bile and signs of infection. The signs and symptoms of NEC can also be seen in patients who do not have NEC. Diagnoses of NEC is based on symptoms and confirmed with radiological imaging of the abdomen. Treatment primarily consists of bowel rest (stopping milk feeds and a nasogastric tube), intravenous nutrition ('drip') and antibiotics. Intensive supportive medical care is needed to monitor vital functions and to support breathing, blood pressure and pain treatment. About half of the patients recover well with medical treatment alone. More severe cases require a surgical operation under general anesthetics. During surgery, severely affected portions of the intestine can be removed, and bowel perforations can be closed. Some of the patients need a temporary enterostomy ('stoma'). Babies who have undergone surgery usually have a more prolonged recovery and a smaller chance of survival. Short-term complications include wound infections, feeding problems and prolonged hospitalization. Long-term complications may include poor intestinal function, short bowel syndrome or neuro developmental delay (motor of cognitive problems).

Gastroenterological diseases ERNICA covers the following diseases within the gastroenterological disease working group. Familial adenomatous polysis Familial adenomatous polyposis Familial adenomatous polyposis (FAP) is characterized by the development of hundreds to thousands of adenomas in the rectum and colon during the second decade of life. Read More Read Less Rare inflammatory bowel diseases Are a group of rare inherited diseases with a typical onset early in life. They involve defects in enterocyte structure or differentiation. Read Less Read More Congenital pancreatic diseases Rare diseases involving intestinal motility Intestinal poyposis Familial adenomatous polyposis Most patients are asymptomatic for years until the adenomas are large and numerous, and cause rectal bleeding or even anemia, or cancer develops. Generally, cancers start to develop a decade after appearance of the polyps. Nonspecific symptoms may include constipation or diarrhea, abdominal pain, palpable abdominal masses and weight loss. DIAGNOSTIC METHODS MANAGEMENT AND TREATMENT PROGNOSIS Diagnosis is based on family history, clinical findings, and large bowel endoscopy or full colonoscopy. Whenever possible, the clinical diagnosis should be confirmed by genetic testing. Patients with FAP carry a 100% risk of colorectal cancer. However, this risk is reduced significantly when patients enter a screening-treatment program. Cancer prevention and maintaining a good quality of life are the main goals of management, and regular and systematic follow-up and supportive care should be offered to all patients. By the late teens or early twenties, colorectal cancer prophylactic surgery is advocated. The recommended alternatives are total proctocolectomy, and ileoanal pouch or ileorectal anastomosis for AFAP. Duodenal cancer and desmoids are the two main causes of mortality after total colectomy. They need to be identified early and treated. Upper endoscopy is necessary for surveillance to reduce the risk of ampullary and duodenal cancer. Patients with progressive tumors and unresectable disease may respond or stabilize with a combination of cytotoxic chemotherapy and surgery. Celecoxib has received marketing authorization by the US Food and Drug Administration (FDA) and the European Medicines Agency to be used as an adjunctive therapy in patients with FAP. Rare inflammatory bowel disease Including pediatric crohn's disease and ulcerative colitis Inflammatory bowel diseases (IBD) mainly occur in patients between the ages of 18 and 25. Approximately one fifth to one quarter of the patients are younger than 20. In children under the age of 18 it is rare. So this is the reason why IBD presenting under the age of 18 years is classified as a rare disease. Children may have the same symptoms as adults. Problems with growth retardation or late puberty are typical in childhood. Ulcerative colitis: In ulcerative colitis, the mucous membrane of the colon is inflamed, which is visible as long, bloody ulcers over a longer part of the colon. Ulcerative colitis is a subacute disease whose main symptoms are bloody or slimy diarrhoea, fatigue, anaemia and sometimes loss of weight. The onset of symptoms can be insidious with diarrhoea and sometimes weight loss. Sometimes the symptoms are more obvious with severe abdominal pain, bloody stools and fever. Crohn's disease Crohn's disease is very rare in children under 5 years of age. It can occur throughout the intestinal tract from the mouth to the anus. Crohn's disease can be accompanied by abdominal pain, diarrhoea, growth retardation, not coming into puberty, weight loss, blood at the stool, paleness, fatigue, ulcers in the mouth, skin tags around the anus, ulcers around the anus or abscesses. In some families, more family members can suffer from Crohn's disease. In coloscopy, the typical abnormalities for Crohn's disease are small veins, inflamed areas alternated with normal large intestine (skip lesions), and less severely affected rectum (rectal sparing). Biopsies show granulomas. Furthermore, the small intestine may have been affected, which happens less often in ulcerative colitis. Furthermore, the presence of anal abnormalities such as fistulae, abscesses, skin tags or fissures is more characteristic of Crohn's disease.

< Back Webinar: Medical Device Shortages & Regulatory Constraints Jan 21, 2026 Medical Device Shortages & Regulatory Constraints: A Collaborative ERN Webinar The increasing shortage of essential medical devices , compounded by evolving regulatory frameworks, presents critical challenges for the care of patients with rare and complex conditions. Restrictions on device availability, limitations on off-label use, and fragmented procurement processes threaten timely access to life-saving technologies across Europe. This collaborative webinar , hosted by ERN eUROGEN , ERNICA , ERKNet , and ERN Guard-Heart, will explore the impact of medical device shortages and new EU regulatory constraints on clinical practice . The discussion will highlight the real-world consequences for rare disease care and focus on navigating regulatory barriers, with particular emphasis on off-label and compassionate use of devices . The current status of MDR registrations and problems will be discussed. Register here: All-in-one virtual event platform | Zoom Events Previous Next