Stromme Syndrome; Stroms

Description

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. In some cases, the condition is lethal in early life, whereas other patients show normal survival with or without mild cognitive impairment (summary by Filges et al., 2016).

Clinical Features

Top most frequent phenotypes and symptoms related to Stromme Syndrome; Stroms

  • Intellectual disability
  • Microcephaly
  • Hypertelorism
  • Micrognathia
  • Ptosis
  • Cleft palate
  • Cataract
  • Cognitive impairment
  • Myopathy
  • Wide nasal bridge
And another 33 symptoms. If you need more information about this disease we can help you.
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Incidence and onset information

Not enough data available about incidence and published cases.


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Stromme Syndrome; Stroms Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Comprehensive Pulmonary Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States.

INVS, FBLN5, ELN, DTNBP1, RPGR, HPS1, BLOC1S3, HPS6, HPS5, HPS4, HPS3, CCDC39, AP3B1, ALMS1, STAT3, CFTR, FOXF1, TINF2, TSC2, TSC1 , (...)

View the complete list with 73 more genes
Specificity
2 %
Genes
100 %
Primary Ciliary Dyskinesia and Cystic Fibrosis Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States.

INVS, RPGR, CCDC39, CFTR, SCNN1A, SCNN1G, SCNN1B, OFD1, DNAH8, DNAH1, MCIDAS, TTC25, DNAJB13, GAS8, RSPH3, CENPF, CCDC151, CCNO, SPAG1, CCDC65 , (...)

View the complete list with 22 more genes
Specificity
3 %
Genes
100 %
Autosomal Recessive Primary Microcephaly Tier 2 panel.

By Genetic Services Laboratory University of Chicago in United States.

SLC25A19, WDR62, MCPH1, ARFGEF2, CENPJ, NDE1, STIL, PNKP, CEP152, CDK5RAP2, CENPF, STAMBP, MED17, CIT, AGMO, SASS6, MFSD2A, CENPE, PHC1, CDK6 , (...)

View the complete list with 4 more genes
Specificity
5 %
Genes
100 %
Microcephaly Sequencing Panel.

By Genetic Services Laboratory University of Chicago in United States.

UBE3A, SLC25A19, MECP2, SLC9A6, WWOX, CDKL5, FOXG1, SLC2A1, WDR62, NBN, MCPH1, ASPM, ARFGEF2, CENPJ, QARS, NDE1, PQBP1, RAB3GAP1, TSEN54, STIL , (...)

View the complete list with 50 more genes
Specificity
2 %
Genes
100 %
Microcephaly Deletion/Duplication Panel.

By Genetic Services Laboratory University of Chicago in United States.

UBE3A, SLC25A19, MECP2, SLC9A6, WWOX, CDKL5, FOXG1, SLC2A1, WDR62, NBN, MCPH1, ASPM, ARFGEF2, CENPJ, QARS, NDE1, PQBP1, RAB3GAP1, TSEN54, STIL , (...)

View the complete list with 59 more genes
Specificity
2 %
Genes
100 %
Primary Ciliary Dyskinesia Panel.

By CeGaT GmbH in Germany.

RPGR, CCDC39, OFD1, DNAH8, GAS8, RSPH3, CENPF, CCDC151, CCNO, SPAG1, CCDC65, CFAP298, DNAAF4, RSPH1, ARMC4, ZMYND10, DRC1, CCDC114, LRRC6, DNAAF5 , (...)

View the complete list with 14 more genes
Specificity
3 %
Genes
100 %
CENPF.

By Fulgent Genetics Fulgent Genetics in United States.

CENPF
Specificity
100 %
Genes
100 %
Microcephaly and Pontocerebellar Hypoplasia Panel.

By Blueprint Genetics in Finland.

RARS2, GFM1, WDR62, MRE11, PHGDH, DYNC1H1, VRK1, POMT1, MCPH1, ASPM, MBD5, CENPJ, NDE1, PQBP1, TSEN54, PAFAH1B1, STIL, TUBB2B, KANSL1, DYRK1A , (...)

View the complete list with 28 more genes
Specificity
3 %
Genes
100 %
Primary Ciliary Dyskinesia Panel.

By Blueprint Genetics in Finland.

INVS, RPGR, CCDC39, CFTR, OFD1, DNAH1, GAS8, RSPH3, CENPF, CCNO, SPAG1, CCDC65, CFAP298, DNAAF4, RSPH1, ARMC4, ZMYND10, DRC1, CCDC114, LRRC6 , (...)

View the complete list with 16 more genes
Specificity
3 %
Genes
100 %
Ciliopathy Panel.

By Blueprint Genetics in Finland.

INVS, INPP5E, CC2D2A, TMEM67, ARL6, NPHP3, NPHP1, MKKS, CEP290, TTC8, TRIM32, NPHP4, C8orf37, IQCB1, PMM2, BBS7, BBS5, BBS12, MKS1, BBS9 , (...)

View the complete list with 79 more genes
Specificity
2 %
Genes
100 %

Alternate names

Stromme Syndrome; Stroms Is also known as jejunal atresia with microcephaly and ocular anomalies, apple peel syndrome with microcephaly and ocular anomalies, ciliary dyskinesia, primary, 31, formerly;cild31, formerly;apple-peel intestinal atresia-ocular anomalies-microcephaly syndrome; jejunal atresia-microcephaly-ocular anomalies syndrome.



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