Stromme syndrome

Classification according to ICD-10
Q87.8	Other specified congenital malformation syndromes, not elsewhere classified
ICD-10 online (WHO version 2019)

The Strømme syndrome is a very rare congenital multisystem disorder with the main features of brain malformations, duodenal atresia and bilateral renal hypoplasia .

Synonyms are: English Jejunal atresia with microcephaly and ocular anomalies; Apple peel syndrome with microcephaly and ocular anomalies

Formerly the syndrome was called English Ciliary dyskinesia, primary, 31; CILD31 led.

The name refers to the first author of the first description from 1993 by the Norwegian pediatrician Petter Strømme and colleagues and was proposed in 2008 by Y. van Bever and colleagues.

distribution

The frequency is given as less than 1 in 1,000,000, inheritance is autosomal - recessive .

root cause

The disease are mutations in CENPF - gene on chromosome 1 locus q41 based.

Clinical manifestations

Clinical criteria are:

sometimes malformations of the kidneys and heart .

In some sufferers, the syndrome is fatal early on , in others life expectancy is normal.

literature

F. Ozkinay, T. Atik, E. Isik, Z. Gormez, M. Sagiroglu, OA Sahin, N. Corduk, H. Onay: A further family of Stromme syndrome carrying CENPF mutation. In: American journal of medical genetics. Part A , Volume 173, No. 6, June 2017, pp. 1668–1672, doi: 10.1002 / ajmg.a.38173 , PMID 28407396 .
BA Dorum, IT Sambel, H. Ozkan, I. Kiristioglu, N. Koksal: Stromme Syndrome: New Clinical Features. In: APSP journal of case reports , Volume 8, No. 2, 2017 Mar – Apr, p. 14, doi: 10.21699 / ajcr.v8i2.564 , PMID 28401041 , PMC 5371687 (free full text).

Web links

Ruby the Treasure (Stromme Syndrome) on YouTube - Ruby is one of 12 people in the world diagnosed with Stromme Syndrome
Hereditary Ocular Disease

Individual evidence

↑ ^a ^b Lethal fetal brain malformation - duodenal atresia - bilateral renal hypoplasia syndrome. In: Orphanet (Rare Disease Database).
↑ P. Strømme, E. Dahl, T. Flage, H. Stene-Johansen: Apple peel intestinal atresia in siblings with ocular anomalies and microcephaly. In: Clinical genetics , Vol. 44, No. 4, October 1993, pp. 208-210, PMID 8261651 .
^ Y. van Bever, L. van Hest, R. Wolfs, D. Tibboel, TL van den Hoonaard, SJ Gischler: Exclusion of a PAX6, FOXC1, PITX2, and MYCN mutation in another patient with apple peel intestinal atresia, ocular anomalies and microcephaly and review of the literature. In: American journal of medical genetics. Part A , Volume 146A, No. 4, February 2008, pp. 500-504, doi: 10.1002 / ajmg.a.32169 , PMID 18203155 (review).
↑ Stromme syndrome. In: Online Mendelian Inheritance in Man . (English)
^ I. Filges, E. Bruder, K. Brandal, S. Meier, DE Undlien, TR Waage, I. Hoesli, M. Schubach, T. de Beer, Y. Sheng, S. Hoeller, S. Schulzke, O. Røsby, P. Miny, S. Tercanli, T. Oppedal, P. Meyer, KK Selmer, P. Strømme: Strømme Syndrome Is a Ciliary Disorder Caused by Mutations in CENPF. In: Human mutation , Volume 37, No. 7, July 2016, p. 711, doi: 10.1002 / humu.22997 , PMID 27300082 .

[Orpha-1] Lethal fetal brain malformation - duodenal atresia - bilateral renal hypoplasia syndrome. In: Orphanet (Rare Disease Database).

[2] P. Strømme, E. Dahl, T. Flage, H. Stene-Johansen: Apple peel intestinal atresia in siblings with ocular anomalies and microcephaly. In: Clinical genetics , Vol. 44, No. 4, October 1993, pp. 208-210, PMID 8261651 .

[3] Y. van Bever, L. van Hest, R. Wolfs, D. Tibboel, TL van den Hoonaard, SJ Gischler: Exclusion of a PAX6, FOXC1, PITX2, and MYCN mutation in another patient with apple peel intestinal atresia, ocular anomalies and microcephaly and review of the literature. In: American journal of medical genetics. Part A , Volume 146A, No. 4, February 2008, pp. 500-504, doi: 10.1002 / ajmg.a.32169 , PMID 18203155 (review).

[4] Stromme syndrome. In: Online Mendelian Inheritance in Man . (English)

[5] I. Filges, E. Bruder, K. Brandal, S. Meier, DE Undlien, TR Waage, I. Hoesli, M. Schubach, T. de Beer, Y. Sheng, S. Hoeller, S. Schulzke, O. Røsby, P. Miny, S. Tercanli, T. Oppedal, P. Meyer, KK Selmer, P. Strømme: Strømme Syndrome Is a Ciliary Disorder Caused by Mutations in CENPF. In: Human mutation , Volume 37, No. 7, July 2016, p. 711, doi: 10.1002 / humu.22997 , PMID 27300082 .