What Is Stromme Syndrome

Stromme syndrome is an autosomal recessive congenital disorder affecting multiple systems with features of a ciliopathy. Affected individuals typically have some type of intestinal atresia variable ocular abnormalities microcephaly and sometimes involvement of other systems including renal and cardiac.

Stromme Syndrome Wcco Cbs Minnesota

Strømme syndrome is a very rare autosomal recessive genetic condition characterised by intestinal atresia in which part of the intestine is missing eye abnormalities and microcephaly.

What is stromme syndrome. Stromme syndrome can cause kidneys to be malformed and underdeveloped. More on stromme syndrome symptoms of stromme syndrome. Affected individuals typically have some type of intestinal atresia variable ocular abnormalities microcephaly and sometimes involvement of other systems including renal and cardiac.

Abnormality of the digestive system duodenal atresia. Before receiving the name stromme syndrome this condition was termed apple peel syndrome with microcephaly and ocular anomalies which highlights the main three affected organs. The abnormalities vary among affected people and sometimes problems with the kidneys or heart are also present.

Stromme syndrome is a ciliary disorder caused by mutations in cenpf filges i bruder e brandal k meier s undlien de waage tr hoesli i schubach m de beer t sheng y hoeller s schulzke s rosby o miny p tercanli s oppedal t meyer p selmer kk stromme p. Abnormality of the abdomen. Affected individuals typically have some type of intestinal atresia variable ocular abnormalities microcephaly and sometimes involvement of other systems including renal and cardiac.

Stromme syndrome is a ciliary disorder caused by mutations in cenpf. Hypoplastic mandible condyle microcephaly. Stromme syndrome is an autosomal recessive congenital disorder affecting multiple systems with features of a ciliopathy.

Stromme syndrome is essentially a birth defect that can alter the way several systems within the body work. Intestines eyes and brain. Stromme syndrome is an autosomal recessive congenital disorder affecting multiple systems with features of a ciliopathy.

The omim literature goes on to say. Imported from human phenotype ontology hpo abnormality of head or neck cleft palate. Hydronephrosis is also a possibility which means that urine will build up in the bladder because it has no passage out of the body.

Depending on the cause surgery may be necessary to save the patients life. The intestinal atresia is of the apple peel type in which the remaining intestine is twisted around its main artery. A rare genetic condition characterized by birth defects or abnormalities in the eyes intestines and skull.

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