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Condition report · Hematological

Inherited Bone Marrow Failure Syndromes

Rare inherited conditions in which the bone marrow does not make enough blood cells, other than better-known forms such as Fanconi anaemia, Diamond-Blackfan anaemia and Shwachman-Diamond syndrome, which have their own reports. Several carry an increased risk of myelodysplastic syndrome or leukaemia.

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

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The 2 conditions we analyse

Bone Marrow Failure Syndrome

A group of rare conditions linked to genes such as DNAJC21, MYSM1 and SRP72, and to combined ADH5 and ALDH2 deficiency (AMED syndrome), causing low blood counts, sometimes with developmental or other features.

What a diagnosis changes

A diagnosis informs the choice of related stem cell donors and transplant preparation, and supports monitoring for myelodysplastic syndrome and leukaemia.

Genes analysed

Includes 8 related subtypes ↓
  • AMED syndrome, digenic
  • autosomal dominant aplasia and myelodysplasia
  • bone marrow failure syndrome 3
  • bone marrow failure syndrome 4
  • bone marrow failure syndrome 5
  • bone marrow failure syndrome 6
  • pancytopenia-developmental delay syndrome
  • Ziegler-Huang syndrome
MONDO:0000159MedGen 419754

MECOM-Associated Syndrome

Autosomal dominant

A dominant condition caused by changes in MECOM that can cause severe bone marrow failure from birth, often with fused forearm bones (radioulnar synostosis), hearing loss or other features.

What a diagnosis changes

Early diagnosis helps plan stem cell transplantation, which is often needed.

Genes analysed

Also known as

MECOM-related syndrome with variable skeletal and hematologic involvement

Includes 1 related subtype ↓
  • radioulnar synostosis with amegakaryocytic thrombocytopenia 2
MONDO:0100458

Other hematological conditions

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