Short stature with photosensitive rash and cancer predisposition.
- Specialty
- Hematology
- Subspecialty
- Hematology / Hereditary cancer
- Sex & age distribution
- Male: affected; Female: affected equally; Children: yes
- Gene(s) involved
- BLM
- Alternative names & eponyms
- Bloom–Torre–Machacek syndrome
Etiology & mechanism
BLM helicase deficiency causes sister chromatid exchange.
Gene(s) involved (1)
Symptoms & signs (6)
In plain terms, someone with Bloom syndrome may experience the following — click any to explore related syndromes:
Same gene(s)
Other syndromes that involve one of this syndrome's genes.
Overlapping symptoms
Other syndromes that share symptoms with this one.
Drag nodes, scroll to zoom, click a node to open that syndrome.
Shares symptoms with
2 shared
Constitutional mismatch repair deficiency syndrome
leukemia, lymphoma
2 shared
Nijmegen breakage syndrome
immunodeficiency, lymphoma
2 shared
Shwachman–Diamond syndrome
leukemia, short stature
1 shared
3M syndrome
short stature
1 shared
Aarskog–Scott syndrome
short stature
1 shared
Andersen–Tawil syndrome
short stature
1 shared
Androgen insensitivity syndrome
infertility
1 shared
Asherman syndrome
infertility
1 shared
Ataxia-telangiectasia
immunodeficiency
1 shared
Börjeson–Forssman–Lehmann syndrome
short stature
Shares genes with
None.
Loading…
Loading…