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Condition report · Gastrointestinal

Intestinal Atresia and Short Bowel

Very rare inherited conditions in which parts of the intestine are blocked or the bowel is abnormally short at birth. The TTC7A form also affects the immune system.

A condition report looks for rare variants known to cause the conditions it covers.

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The 2 conditions we analyse

Multiple intestinal atresia

Autosomal recessive

Multiple blockages along the intestine present at birth, caused by TTC7A variants and often accompanied by combined immunodeficiency and very-early-onset inflammatory bowel disease.

What a diagnosis changes

Knowing the cause prompts immune evaluation, which affects decisions about stem cell or intestinal transplant.

Genes analysed

Also known as

isolated multiple intestinal atresia

Includes 3 related subtypes ↓
  • gastrointestinal defect and immunodeficiency syndrome
  • gastrointestinal defects and immunodeficiency syndrome 1
  • gastrointestinal defects and immunodeficiency syndrome 2
MONDO:0009465Orphanet 2300MedGen 65090

Congenital short bowel syndrome, autosomal recessive

Autosomal recessive

A markedly shortened small intestine at birth, caused by CLMP variants, leading to poor absorption of nutrients.

What a diagnosis changes

Early diagnosis supports nutritional planning, including parenteral nutrition where needed.

Genes analysed

Also known as

congenital short bowel syndrome; congenital short bowel syndrome 1; congenital short bowel syndrome due to CLMP variation; CSBS

MONDO:0020718OMIM 615237

Limitations

  • The X-linked form of congenital short bowel syndrome (FLNA) is included in the Hereditary Visceral Myopathy, CIPO & MMIHS report.

Other gastrointestinal conditions

All conditions →

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