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congenital short bowel syndrome

MONDO:0014097Mondo

Findings

No curated finding names congenital short bowel syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.

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.

Definition from the Mondo Disease Ontology (MONDO:0014097), read 2026-09-29. CC BY 4.0.

Features

7 features

What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.

Intestinal hypoplasiaHPOHP:0005245
- Very frequent (80% to 99% of cases)
Cognitive impairmentHPOHP:0100543
- Frequent (30% to 79% of cases)
Intestinal malrotationHPOHP:0002566
- Frequent (30% to 79% of cases)
LipoatrophyHPOHP:0100578
- Frequent (30% to 79% of cases)
Short statureHPOHP:0004322
- Frequent (30% to 79% of cases)
Sparse hairHPOHP:0008070
- Frequent (30% to 79% of cases)
Displacement of the urethral meatusHPOHP:0100627
- Occasional (5% to 29% of cases)

Genes

2 genes

Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.

CLMPHGNC:24039
- Supportive · Orphanet · Autosomal recessive · 2021
FLNAHGNC:3754
- Supportive · Orphanet · Autosomal recessive · 2021

Where it sits

A kind of: disorder of development or morphogenesis
small intestine disorder
Narrower terms (2): congenital short bowel syndrome, autosomal recessive
intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked

Other names

1 name

Resolves to: congenital short bowel syndrome

Also called: CSBS