Bloom syndrome
- Synonyms
- Bloom-Torre-Machacek syndrome; Growth deficiency, sun-sensitive, telangiectatic, hypo and hyperpigmented skin, predisposition to malignancy and chromosomal instability
- Modes of inheritance
- Autosomal recessive inheritance (Orphanet)
Summary
Available tests
Check Related conditions for additional relevant tests.
Clinical tests (138 available)
Biochemical Genetics Tests
Cytogenetics Tests
Molecular Genetics Tests
- Detection of homozygosity (1)
- Microsatellite instability testing (MSI) (1)
- Mutation scanning of select exons (8)
- Sequence analysis of select exons (16)
- RNA analysis (1)
- Deletion/duplication analysis (74)
- Sequence analysis of the entire coding region (107)
- Mutation scanning of the entire coding region (1)
- Targeted variant analysis (35)
Clinical features
Help- Abnormal cellular phenotype
- Abnormality of chromosome stability
Abnormality of chromosome stability
- MedGen UID: 1631925
- Concept ID: C4551705
- Finding: Cell or Molecular Dysfunction
Abnormal cellular phenotype
- Chromosome breakage
Chromosome breakage
- MedGen UID: 91280
- Concept ID: C0376628
- Finding: Cell or Molecular Dysfunction
Abnormal cellular phenotype
- Abnormality of chromosome stability
- Abnormality of blood and blood-forming tissues
- Elevated hemoglobin A1c
Elevated hemoglobin A1c
- MedGen UID: 892798
- Concept ID: C4073162
- Finding: Finding
Abnormality of blood and blood-forming tissues
- Elevated hemoglobin A1c
- Abnormality of head or neck
- Agenesis of maxillary lateral incisor
Agenesis of maxillary lateral incisor
- MedGen UID: 342374
- Concept ID: C1849950
- Finding: Finding
Abnormality of head or neck
- Narrow face
Narrow face
- MedGen UID: 373334
- Concept ID: C1837463
- Finding: Finding
Abnormality of head or neck
- Prominent nose
Prominent nose
- MedGen UID: 98423
- Concept ID: C0426415
- Finding: Finding
Abnormality of head or neck
- Agenesis of maxillary lateral incisor
- Abnormality of limbs
- Clinodactyly of the 5th finger
Clinodactyly of the 5th finger
- MedGen UID: 340456
- Concept ID: C1850049
- Finding: Congenital Abnormality
Abnormality of limbs
- Hand polydactyly
Hand polydactyly
- MedGen UID: 510636
- Concept ID: C0158733
- Finding: Congenital Abnormality
Abnormality of limbs
- Syndactyly
Syndactyly
- MedGen UID: 52619
- Concept ID: C0039075
- Finding: Congenital Abnormality
Abnormality of limbs
- Clinodactyly of the 5th finger
- Abnormality of metabolism/homeostasis
- Type II diabetes mellitus
Type II diabetes mellitus
- MedGen UID: 41523
- Concept ID: C0011860
- Finding: Disease or Syndrome
Abnormality of metabolism/homeostasis
- Type II diabetes mellitus
- Abnormality of the digestive system
- Hepatic steatosis
Hepatic steatosis
- MedGen UID: 398225
- Concept ID: C2711227
- Finding: Disease or Syndrome
Abnormality of the digestive system
- Hepatic steatosis
- Abnormality of the ear
- Protruding ear
Protruding ear
- MedGen UID: 343309
- Concept ID: C1855285
- Finding: Finding
Abnormality of the ear
- Protruding ear
- Abnormality of the genitourinary system
- Azoospermia
Azoospermia
- MedGen UID: 2150
- Concept ID: C0004509
- Finding: Disease or Syndrome
Abnormality of the genitourinary system
- Cryptorchidism
Cryptorchidism
- MedGen UID: 8192
- Concept ID: C0010417
- Finding: Congenital Abnormality
Abnormality of the genitourinary system
- Decreased fertility in females
Decreased fertility in females
- MedGen UID: 57728
- Concept ID: C0151639
- Finding: Finding
Abnormality of the genitourinary system
- Azoospermia
- Abnormality of the immune system
- Decreased circulating IgA concentration
Decreased circulating IgA concentration
- MedGen UID: 57934
- Concept ID: C0162538
- Finding: Disease or Syndrome
Abnormality of the immune system
- Decreased circulating IgG concentration
Decreased circulating IgG concentration
- MedGen UID: 1720114
- Concept ID: C5234937
- Finding: Finding
Abnormality of the immune system
- Decreased circulating total IgM
Decreased circulating total IgM
- MedGen UID: 116095
- Concept ID: C0239989
- Finding: Finding
Abnormality of the immune system
- Malar rash
Malar rash
- MedGen UID: 75808
- Concept ID: C0277942
- Finding: Finding
Abnormality of the immune system
- Decreased circulating IgA concentration
- Abnormality of the integument
- Cafe-au-lait spot
Cafe-au-lait spot
- MedGen UID: 113157
- Concept ID: C0221263
- Finding: Finding
Abnormality of the integument
- Cutaneous photosensitivity
Cutaneous photosensitivity
- MedGen UID: 87601
- Concept ID: C0349506
- Finding: Pathologic Function
Abnormality of the integument
- Facial erythema
Facial erythema
- MedGen UID: 65986
- Concept ID: C0239488
- Finding: Finding
Abnormality of the integument
- Facial telangiectasia in butterfly midface distribution
Facial telangiectasia in butterfly midface distribution
- MedGen UID: 867272
- Concept ID: C4021632
- Finding: Finding
Abnormality of the integument
- Hypertrichosis
Hypertrichosis
- MedGen UID: 43787
- Concept ID: C0020555
- Finding: Disease or Syndrome
Abnormality of the integument
- Hypopigmentation of the skin
Hypopigmentation of the skin
- MedGen UID: 102477
- Concept ID: C0162835
- Finding: Disease or Syndrome
Abnormality of the integument
- Spotty hypopigmentation
Spotty hypopigmentation
- MedGen UID: 812508
- Concept ID: C3806178
- Finding: Finding
Abnormality of the integument
- Cafe-au-lait spot
- Abnormality of the musculoskeletal system
- Dolichocephaly
Dolichocephaly
- MedGen UID: 65142
- Concept ID: C0221358
- Finding: Congenital Abnormality
Abnormality of the musculoskeletal system
- Malar flattening
Malar flattening
- MedGen UID: 347616
- Concept ID: C1858085
- Finding: Finding
Abnormality of the musculoskeletal system
- Microcephaly
Microcephaly
- MedGen UID: 1644158
- Concept ID: C4551563
- Finding: Finding
Abnormality of the musculoskeletal system
- Dolichocephaly
- Abnormality of the nervous system
- Abnormally high-pitched voice
Abnormally high-pitched voice
- MedGen UID: 66836
- Concept ID: C0241703
- Finding: Finding
Abnormality of the nervous system
- Intellectual disability, mild
Intellectual disability, mild
- MedGen UID: 10044
- Concept ID: C0026106
- Finding: Mental or Behavioral Dysfunction
Abnormality of the nervous system
- Specific learning disability
Specific learning disability
- MedGen UID: 871302
- Concept ID: C4025790
- Finding: Mental or Behavioral Dysfunction
Abnormality of the nervous system
- Abnormally high-pitched voice
- Abnormality of the respiratory system
- Bronchiectasis
Bronchiectasis
- MedGen UID: 14234
- Concept ID: C0006267
- Finding: Disease or Syndrome
Abnormality of the respiratory system
- Chronic lung disease
Chronic lung disease
- MedGen UID: 196656
- Concept ID: C0746102
- Finding: Disease or Syndrome
Abnormality of the respiratory system
- Recurrent upper respiratory tract infections
Recurrent upper respiratory tract infections
- MedGen UID: 154380
- Concept ID: C0581381
- Finding: Disease or Syndrome
Abnormality of the respiratory system
- Bronchiectasis
- Growth abnormality
- Fetal growth restriction
Fetal growth restriction
- MedGen UID: 4693
- Concept ID: C0015934
- Finding: Pathologic Function
Growth abnormality
- Growth delay
Growth delay
- MedGen UID: 99124
- Concept ID: C0456070
- Finding: Pathologic Function
Growth abnormality
- Postnatal growth retardation
Postnatal growth retardation
- MedGen UID: 395343
- Concept ID: C1859778
- Finding: Finding
Growth abnormality
- Small for gestational age
Small for gestational age
- MedGen UID: 65920
- Concept ID: C0235991
- Finding: Finding
Growth abnormality
- Fetal growth restriction
- Neoplasm
- Leukemia
Leukemia
- MedGen UID: 9725
- Concept ID: C0023418
- Finding: Neoplastic Process
Neoplasm
- Lymphoma
Lymphoma
- MedGen UID: 44223
- Concept ID: C0024299
- Finding: Neoplastic Process
Neoplasm
- Squamous cell carcinoma
Squamous cell carcinoma
- MedGen UID: 2874
- Concept ID: C0007137
- Finding: Neoplastic Process
Neoplasm
- Leukemia
- NCI PDQ, Skin CancerGenetics of Skin Cancer (PDQ®): Health Professional Version
- NCI PDQ, Cancer Genetics CounselingCancer Genetics Risk Assessment and Counseling (PDQ®): Health Professional Version
- NCCN, 2024NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®) Esophageal and Esophagogastric Junction Cancers, 2024
- ACMG ACT, 2011American College of Medical Genetics ACT Sheet, Carrier Screening ACT Sheet Ashkenazi Jewish Genetic Disorders
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