Strømme syndrome - Wikipedia
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 …
Stromme syndrome: Causes, symptoms, and more - Medical News Today
Dec 4, 2020 · Stromme syndrome is a very rare genetic condition. It affects multiple bodily systems and causes anomalies in the intestines, eyes, and skull. It can also affect other areas …
Strømme Syndrome - GeneReviews® - NCBI Bookshelf
Nov 10, 2022 · Strømme syndrome is a clinically variable disorder characterized primarily by small bowel intestinal atresia (including apple peel intestinal atresia), microcephaly, developmental …
What Is Stromme Syndrome? - Healthline
Oct 19, 2022 · Stromme syndrome is a rare genetic disorder affecting the intestines, eyes, and skull. We explain the genetics, symptoms, and outlook for this rare condition.
Stromme syndrome | About the Disease | GARD - Genetic and …
Stromme syndrome is a rare genetic condition present at birth. It is usually characterized by having a smaller than usual head and smaller than usual eyeballs. People with this condition …
Stromme syndrome - NIH Genetic Testing Registry (GTR) - NCBI
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, …
Entry - #243605 - STROMME SYNDROME; STROMS - OMIM
Feb 27, 2019 · Stromme syndrome (STROMS) is an autosomal recessive congenital disorder affecting multiple systems with features of a ciliopathy. Affected individuals typically have …
Strømme Syndrome | Causes, Symptoms, Diagnosis & Treatments
Sep 15, 2018 · Strømme syndrome is a rare hereditary disease caused by a mutation in the Centromere protein F at chromosome 1q41 (CENPF 1q41) gene. This mutation happens in …
Strømme Syndrome | Hereditary Ocular Diseases
The core complex of Stromme syndrome consists of intestinal atresia and ocular abnormalities of the anterior segment. The ocular anomalies consist of variable amounts of angle dysgenesis, …
Orphanet: Stromme syndrome
A rare multiple congenital anomalies syndrome usually characterized by microcephaly, ocular anomalies such as microphthalmia, and apple-peel intestinal atresia.