Bloom syndrome
Findings
No curated finding names Bloom syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Bloom syndrome (BSyn) is a rare chromosomal breakage syndrome characterized by a marked genetic instability associated with pre- and postnatal growth retardation, facial sun-sensitive telangiectatic erythema, increased susceptibility to infections, and predisposition to cancer.
Definition from the Mondo Disease Ontology (MONDO:0008876), read 2026-09-29. CC BY 4.0.
- Onset and course
- Congenital onset · Infantile onset
HPO, annotations 2026-09-02
Features
75 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Elevated hemoglobin A1cHPOHP:0040217
- 1 of 1 reported patient
- Facial erythemaHPOHP:0001041
- 1 of 1 reported patient
- Growth delayHPOHP:0001510
- 1 of 1 reported patient
- Very frequent (80% to 99% of cases)
- Hepatic steatosisHPOHP:0001397
- 1 of 1 reported patient
- Hypopigmentation of the skinHPOHP:0001010
- 1 of 1 reported patient
- Frequent (30% to 79% of cases)
- Malar rashHPOHP:0025300
- 5 of 5 reported patients
Show the remaining 63
- Decreased circulating immunoglobulin concentrationHPOHP:0004313
- Very frequent (80% to 99% of cases)
- Intrauterine growth retardationHPOHP:0001511
- Very frequent (80% to 99% of cases)
- Severe postnatal growth retardationHPOHP:0008850
- Very frequent (80% to 99% of cases)
- Abnormal total CD8+ T cell numberHPOHP:0031393
- Frequent (30% to 79% of cases)
- Cafe-au-lait spotHPOHP:0000957
- Frequent (30% to 79% of cases)
- Cutaneous photosensitivityHPOHP:0000992
Genes
2 genes
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- BLMHGNC:1058
- Definitive · ClinGen · Autosomal recessive · 2019
- Definitive · Laboratory for Molecular Medicine · Autosomal recessive · 2020
- Definitive · Myriad Women's Health · Autosomal recessive · 2018
- Definitive · Natera · Autosomal recessive · 2023
- Definitive · G2P · Autosomal recessive · 2018
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Genomics England PanelApp · Autosomal recessive · 2021
- Supportive · Orphanet · Autosomal recessive · 2021
- RMI2HGNC:28349
- Moderate · PanelApp Australia · Autosomal recessive · 2025
Where it sits
Other names
3 names
Resolves to: Bloom syndrome
- Also called
- Bloom-Torre-Machacek syndromeBSyncongenital telangiectatic erythema syndrome