Congenital Short Bowel Syndrome

Description

Congenital short bowel syndrome is a rare intestinal disorder of neonates of unknown etiology. Patients are born with a short small bowel (less than 75 cm in length) that compromises proper intestinal absorption and leads chronic diarrhea, vomiting and failure to thrive.

Clinical Features

Top most frequent phenotypes and symptoms related to Congenital Short Bowel Syndrome

  • Short stature
  • Failure to thrive
  • Cognitive impairment
  • Vomiting
  • Diarrhea
  • Gastroesophageal reflux
  • Hypotrichosis
  • Malabsorption
  • Hepatic failure
  • Abdominal distention

And another 19 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
No data available about the known clinical features onset.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.


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Congenital Short Bowel Syndrome Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Congenital short-bowel syndrome (sequence analysis of CLMP gene).

By CGC Genetics (Portugal).

CLMP
Specificity
100 %
Genes
50 %
Congenital short-bowel syndrome.

By Centogene AG - the Rare Disease Company (Germany).

CLMP
Specificity
100 %
Genes
50 %
CLMP.

By Fulgent Genetics Fulgent Genetics (United States).

CLMP
Specificity
100 %
Genes
50 %
Gastrointestinal Atresia Panel.

By Blueprint Genetics (Finland).

SOX2, TTC7A, CHD7, RFX6, PTF1A, CLMP, DHCR7, EFTUD2, FANCB, FANCC, GLI3, MID1, MYCN
Specificity
8 %
Genes
50 %
Epilepsy Advanced Sequencing and CNV Evaluation - Developmental Brain Malformations.

By Athena Diagnostics Inc (United States).

SHH, STIL, SIX3, TUBA8, SLC25A19, DEAF1, ARFGEF2, RAB3GAP1, CENPJ, NDE1, FKRP, ARX, ASPM, POMGNT1, POMT2, TUBA1A, COL4A1, CPT2, WDR62, DCX , (...)

View the complete list with 20 more genes
Specificity
3 %
Genes
50 %
Epilepsy Advanced Sequencing and CNV Evaluation.

By Athena Diagnostics Inc (United States).

SCN1A, SCN1B, SCN2A, SCN3A, SCN5A, SCN8A, SCN9A, SHH, ST3GAL3, ST3GAL5, STIL, SIX3, SLC2A1, SLC35A2, SLC6A1, SLC6A8, SLC9A6, SMC1A, KDM5C, SMS , (...)

View the complete list with 214 more genes
Specificity
1 %
Genes
50 %
NGS XLID Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).

RPL10, RPS6KA3, SLC16A2, SLC9A6, SMC1A, KDM5C, SMS, SOX3, CDKL5, SYN1, SYP, TAF1, TIMM8A, TSPAN7, MED12, UBE2A, USP9X, ZMYM3, ZNF41, ZNF711 , (...)

View the complete list with 94 more genes
Specificity
1 %
Genes
50 %
NGS Skeletal Dysplasia Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).

SLC26A2, SOX9, TRPV4, COL1A2, COMP, FGFR3, FLNA, HSPG2
Specificity
13 %
Genes
50 %

We have 215 more panels available in our App

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Sources and references

You can check the following sources for additional information.

ORPHANET OMIM Rare Disease Symptoms Checker

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY; CMS4C LYSINURIC PROTEIN INTOLERANCE; LPI NARCOLEPSY-CATAPLEXY SYNDROME CORNEAL ENDOTHELIAL DYSTROPHY; CHED

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