Strømme Syndrome

Clinical Characteristics

Ocular Features:

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, anterior synechiae, corneal leukoma, iris colobomas and hypoplasia, sclerocornea, cataracts, and sometimes microcornea. However, microphthalmia, tortuous retinal vessels, and optic nerve hypoplasia may also be present. Hypertelorism and deep-set eyes have been described. Glaucoma has not been reported. Only about 10 cases have been reported since Stromme 's first report in 1993. Most patients have been too young for reliable acuity testing.

Systemic Features:

The phenotype is highly variable. The ears are often large and low-set. Microcephaly is often present along with a cleft palate and micrognathia. The intestinal atresia seems to involve the jejunum primarily and is usually surgically correctable. The duodenum may also be involved and intestinal malrotation has been described. Myopathic changes in the myocardium have been seen along with small cardiomyoctes. Microcephaly seems to be progressive. Short stature has been noted and the amount of developmental delay is highly variable. Renal hypodysplasia and hydronephrosis have been described.

Some patients seem to develop and function almost normally while more severely affected individuals may not live beyond early infancy or childhood.

Genetics

Compound heterozygous mutations in the CENPF [1] gene (1q41) segregate with this condition.

Treatment

Treatment Options:

Infants do well following intestinal surgery. Ocular surgery has not been reported.

References

Article Title:

Stromme Syndrome: New Clinical Features [2]

Stromme Syndrome: New Clinical Features Bayram Ali Dorum, Irmak Tanal Sambel, Hilal Ozkan, Irfan Kiristioglu, Nilgun Koksal APSP J Case Rep. 2017 Mar-Apr; 8(2): 14. Published online 2017 Mar 18.

PubMed ID:

5371687

Stromme Syndrome is a Ciliary Disorder Caused by Mutations in CENPF [3]

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. Stromme Syndrome is a Ciliary Disorder Caused by Mutations in CENPF. Hum Mutat. 2016 Jan 28. doi: 10.1002/humu.22960. [Epub ahead of print].

PubMed ID:

26820108

Jejunal atresia and anterior chamber anomalies: Further delineation of the Stromme syndrome [4]

Castori M, Laino L, Briganti V, Pedace L, Zampini A, Marconi M, Grammatico B, Buffone E, Grammatico P. Jejunal atresia and anterior chamber anomalies: Further delineation of the Stromme syndrome. Eur J Med Genet. 2010 May-Jun;53(3):149-52.

PubMed ID:

20219704

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 [5]

van Bever Y, van Hest L, Wolfs R, Tibboel D, van den Hoonaard TL, Gischler SJ. 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. Am J Med Genet A. 2008 Feb 15;146A(4):500-4. Review.

PubMed ID:

18203155

Apple peel intestinal atresia in siblings with ocular anomalies and microcephaly [6]

Stromme P, Dahl E, Flage T, Stene-Johansen H. Apple peel intestinal atresia in siblings with ocular anomalies and microcephaly. Clin Genet. 1993 Oct;44(4):208-10.

PubMed ID:

8261651