Pancreas, Annular

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Disease Ontology 12 DOID:0060850 OMIM 56 167750 MeSH 43 C536376 NCIt 49 C98813 SNOMED-CT 67 40315008 ICD10 32 Q45.1 MESH via Orphanet 44 C536376

ICD10 via Orphanet 33 Q45.1 UMLS via Orphanet 72 C0149955 Orphanet 58 ORPHA675 MedGen 41 C0149955 SNOMED-CT via HPO 68 263681008 73120006 UMLS 71 C0149955

NIH Rare Diseases : ⁵² The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 675 Definition A distinct form of duodenal atresia in which the head of the pancreas forms a ring around the second portion of the duodenum. Epidemiology The annual incidence is estimated at around 1/50,000 births, representing 10% of all cases of duodenal stenosis. Clinical description During the neonatal period, the clinical picture is dominated by epigastric distension with vomiting, which is nonbilious as the obstruction is usually supra-vaterian (above the junction of the biliary ducts). As in other forms of duodenal atresia, malformations of the cranial intestine are also frequently present in patients with annular pancreas. Cardiac anomalies may also be present and are more frequent in the context of notochord induction anomalies or deficiency. Chromosomal abnormalities are present in one-third of cases of annular pancreas, with trisomy 21 (followed by trisomy 18 and 13; see these terms) being the most frequently detected anomaly. Etiology Annular pancreas is an embryopathy resulting from an anomaly occurring early (towards the fourth week) in development. It is a distinct form of duodenal atresia, rather than a pancreatic anomaly, and should not be confused with other congenital malformations of the pancreas or pancreaticobiliary ducts (such as anomalies of the pancreaticobiliary junction) for which the diagnosis cannot be made until childhood or adulthood. Diagnostic methods Diagnosis of annular pancreas is often made before birth through ultrasound findings showing duodenal dilation and through difficulties in observing peri-duodenal pancreatic development. In cases where the diagnosis is not made prenatally, it is made in the neonatal period on the basis of the clinical picture and imagining studies (abdominal radiography and ultrasound). Differential diagnosis The differential diagnosis should include other forms of duodenal stenosis. Antenatal diagnosis Prenatal diagnosis allows management to be planned in a specialized center immediately after birth. Management and treatment Investigations using a gastric tube allow drainage of the digestive tract prior to the site of obstruction. Treatment is surgical and is performed in the neonatal period. Prognosis The prognosis for annular pancreas is very favorable, but the overall prognosis depends on the presence of associated malformations. Visit the Orphanet disease page for more resources.

MalaCards based summary : Pancreas, Annular, also known as annular pancreas, is related to esophageal atresia and duodenal obstruction. An important gene associated with Pancreas, Annular is FOXF1 (Forkhead Box F1), and among its related pathways/superpathways are Signaling events mediated by the Hedgehog family and Hedgehog Signaling Pathway (WikiPathways). Affiliated tissues include pancreas, kidney and small intestine, and related phenotypes are duodenal stenosis and annular pancreas

Disease Ontology : ¹² A pancreas disease characterized by autosomal dominant inheritance of the annular pancreas (head of the pancreas forming a ring around the second portion of the duodenum) and duodenal stenosis.

Wikipedia : ⁷⁴ Annular pancreas is a rare condition in which the second part of the duodenum is surrounded by a ring of... more...

More information from OMIM: 167750

Clinical features from OMIM:

167750

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