Table 1.

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+

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.