Characteristics of the inherited bone marrow failure syndromes
| . | FA . | DC . | SDS . | DBA . | CDA . | CAMT . | SCN . | New* . |
|---|---|---|---|---|---|---|---|---|
| Inheritance pattern | AR, XLR | XLR, AR | AR | AD | AR | AR | AD | AR |
| AD | AD | XLR | AD | AD | AR | AD | ||
| Somatic abnormalities | Yes | Yes | Yes | Yes | Rare | Yes | Rare | Yes |
| Bone marrow failure | AA (90%) | AA (80%) | AA (20%) | RCA | Dysery | Meg | Neut | Yes |
| Short telomeres | Yes | Yes† | Yes | No | No | No | ? | |
| Cancer | Yes | Yes | Yes | Yes | No | Yes | Yes | Yes |
| Chromosome instability | Yes | Yes | Yes | ? | ? | No | ? | Yes‡ |
| Genes identified | 22 | 16 | 4 | 21 | 5 | 4 | 7 | 25+ |
| . | FA . | DC . | SDS . | DBA . | CDA . | CAMT . | SCN . | New* . |
|---|---|---|---|---|---|---|---|---|
| Inheritance pattern | AR, XLR | XLR, AR | AR | AD | AR | AR | AD | AR |
| AD | AD | XLR | AD | AD | AR | AD | ||
| Somatic abnormalities | Yes | Yes | Yes | Yes | Rare | Yes | Rare | Yes |
| Bone marrow failure | AA (90%) | AA (80%) | AA (20%) | RCA | Dysery | Meg | Neut | Yes |
| Short telomeres | Yes | Yes† | Yes | No | No | No | ? | |
| Cancer | Yes | Yes | Yes | Yes | No | Yes | Yes | Yes |
| Chromosome instability | Yes | Yes | Yes | ? | ? | No | ? | Yes‡ |
| Genes identified | 22 | 16 | 4 | 21 | 5 | 4 | 7 | 25+ |
CAMT, congenital amegakaryocytic thrombocytopenia and syndromic thrombocytopenia; Dysery, usually dyserythropoiesis; Meg, typically low megakaryocytes, but can progress to global bone marrow failure; Neut, usually low neutrophils; RCA, red cell aplasia, although some patients can develop global bone marrow failure; XLR, X-linked recessive.
Includes new and overlapping syndromes.
Yes, usually very short in DC and short in FA and SDS.
Yes, only some new subtypes are currently known to show chromosome instability.