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词条 Strømme syndrome
释义

  1. Symptoms

  2. Cause

  3. Diagnosis

  4. Treatment

  5. Prognosis

  6. References

  7. External links

{{Infobox medical condition (new)|name=Strømme syndrome|synonym=Stromme syndrome, apple-peel intestinal atresia-ocular anomalies-microcephaly syndrome, jejunal atresia-microcephaly-ocular anomalies syndrome|image=Autosomal recessive - en.svg|alt=|caption=This condition is inherited in an autosomal recessive manner.|pronounce={{IPA-no|²strœmːə}}}}Strømme syndrome is an extremely rare autosomal recessive genetic disorder which affects multiple systems of the body and presents as a ciliopathy. Affected individuals typically have intestinal atresia (narrowing or discontinuation of the intestine), eye abnormalities, microcephaly and sometimes kidney or heart problems as well as cognitive impairment.[1] The syndrome was first described by Norwegian paediatrician Petter Strømme in 1993[1][2] and was named after him by van Bever et. al. in 2007.[3] Only about 10 individuals worldwide have been diagnosed since Strømme's first report.[5]

Symptoms

The core features of Strømme syndrome are intestinal atresia, typically of the jejunum, and eye abnormalities of the anterior segment.[4]

The eye anomalies typically include several of the following: anterior segment dysgenesis, synechiae, corneal leukoma (opacity), iris colobomas and underdevelopment, sclerocornea, cataracts and sometimes microcornea. Microphthalmia, tortuous retinal vessels and optic nerve hypoplasia may also be present. Deep-set eyes have been described.[4] The ocular issues can be more severe in one eye than the other.[1]

The physical features are highly variable but usually include large and low-set ears, microcephaly, short stature, high nasal bridge, cleft palate and micrognathia. The microcephaly appears to become more apparent as the child develops.[4]

Heart problems can include myopathic changes in the cardiac muscle as well as small cardiac muscle cells. Renal problems include underdevelopment of the kidneys and hydronephrosis.[4]

Developmental delay is usually present in Strømme syndrome, but the severity is highly variable.[4]

Cause

Strømme syndrome is caused by a mutation in the CENPF gene, which is located on the long arm of chromosome 1 and is thought to play a role in chromosome segregation[1] as well as the normal embryonic cardiac muscle cell cycle.[5]

Diagnosis

Diagnosis is typically achieved by observation of symptoms. Whole exome sequencing can provide a full confirmation.[6][7]

Treatment

There is no cure for Strømme syndrome, and treatment targets the specific symptoms. The intestinal atresia is usually surgically correctable in infancy, however no eye surgery treatment has been reported.[4]

Prognosis

The prognosis of Strømme syndrome is highly variable; some affected individuals do not live beyond early infancy or childhood, while others may develop and function almost normally.[4]

References

1. ^1 2 3 {{Cite web|url=https://www.omim.org/entry/243605|title=OMIM Entry - # 243605 - STROMME SYNDROME; STROMS|last=|first=|date=|website=www.omim.org|language=en-us|archive-url=|archive-date=|dead-url=|access-date=2018-09-27}}
2. ^{{Cite journal|last=Strømme|first=P.|last2=Dahl|first2=E.|last3=Flage|first3=T.|last4=Stene-Johansen|first4=H.|date=October 1993|title=Apple peel intestinal atresia in siblings with ocular anomalies and microcephaly|journal=Clinical Genetics|volume=44|issue=4|pages=208–210|issn=0009-9163|pmid=8261651}}
3. ^{{Cite journal|last=Dorum|first=Bayram Ali|last2=Sambel|first2=Irmak Tanal|last3=Ozkan|first3=Hilal|last4=Kiristioglu|first4=Irfan|last5=Koksal|first5=Nilgun|date=2017-03-18|title=Stromme Syndrome: New Clinical Features|url=https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5371687/|journal=APSP Journal of Case Reports|volume=8|issue=2|pages=14|doi=10.21699/ajcr.v8i2.564|issn=2218-8185|pmc=5371687|pmid=28401041}}
4. ^1 2 3 4 5 6 7 {{Cite web|url=http://disorders.eyes.arizona.edu/disorders/str%C3%B8mme-syndrome|title=Strømme Syndrome {{!}} Hereditary Ocular Diseases|website=disorders.eyes.arizona.edu|language=en|access-date=2018-09-27}}
5. ^{{Cite web|url=https://www.uniprot.org/uniprot/P49454|title=CENPF - Centromere protein F precursor - Homo sapiens (Human) - CENPF gene & protein|website=www.uniprot.org|language=en|access-date=2018-09-28}}
6. ^{{Cite journal|last=Filges|first=Isabel|last2=Bruder|first2=Elisabeth|last3=Brandal|first3=Kristin|last4=Meier|first4=Stephanie|last5=Undlien|first5=Dag Erik|last6=Waage|first6=Trine Rygvold|last7=Hoesli|first7=Irene|last8=Schubach|first8=Max|last9=de Beer|first9=Tjaart|date=April 2016|title=Strømme Syndrome Is a Ciliary Disorder Caused by Mutations in CENPF|journal=Human Mutation|volume=37|issue=4|pages=359–363|doi=10.1002/humu.22960|issn=1098-1004|pmid=26820108}}
7. ^{{Cite journal|last=Waters|first=Aoife M.|last2=Asfahani|first2=Rowan|last3=Carroll|first3=Paula|last4=Bicknell|first4=Louise|last5=Lescai|first5=Francesco|last6=Bright|first6=Alison|last7=Chanudet|first7=Estelle|last8=Brooks|first8=Anthony|last9=Christou-Savina|first9=Sonja|date=March 2015|title=The kinetochore protein, CENPF, is mutated in human ciliopathy and microcephaly phenotypes|journal=Journal of Medical Genetics|volume=52|issue=3|pages=147–156|doi=10.1136/jmedgenet-2014-102691|issn=1468-6244|pmc=4345935|pmid=25564561}}

External links

{{Medical resources|DiseasesDB=|ICD10=Q87.8|ICD9=|ICDO=|OMIM=243605|MedlinePlus=|eMedicineSubj=|eMedicineTopic=|eMedicine_mult=|MeshID=C565460|GeneReviewsNBK=|GeneReviewsName=}}
  • Orphanet entry for [https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=506307 Strømme syndrome]

7 : Ciliopathy|Rare syndromes|Syndromes affecting the eyes|Syndromes affecting the kidneys|Syndromes affecting the gastrointestinal tract|Syndromes affecting head size|Syndromes affecting the heart
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