IllnessBloom syndrome, differential diagnosis

NGS +

Bloom syndrome is characterized by short stature from birth, skin rash after sun exposure and increased risk of malignancies occurring earlier in life than in the general population. Patients usually develop butterfly-shaped, reddened skin over the nose and cheeks, and hypo- or hyperpigmentation elsewhere. People with Bloom syndrome have a high-pitched voice and prominent facial features, sometimes learning disabilities, diabetes, COPD and mild immune system disorders. Men with Bloom syndrome usually do not produce sperm, and women are generally sub-fertile. Bloom syndrome is inherited in an autosomal recessive manner as caused by mutations in the BLM gene, which codes for a RecQ helicase, a "care-taker of the genome." In the non-Jewish population, the DNA diagnostic yield for the BLM gene alone is 97%, and in Ashkenazim it is close to 100%.

Reference: https://www.ncbi.nlm.nih.gov/books/NBK1398/

• Allelic: Multiple myeloma, resistance to (LIG4)
• Ataxia-telangiectasia (ATM)
• Ataxia-telangiectasia-like disorder 1 (MRE11)
• Bloom syndrome (BLM)
• Bloom syndrome like disorder [genereviews] (RMI2)
• Bloom syndrome like disorder [panelapp] (RMI1)
• Fanconi anemia, complementation group A (FANCA)
• Fanconi anemia, complementation group B (FANCB)
• Fanconi anemia, complementation group C (FANCC)
• Fanconi anemia, complementation group D1 (BRCA2)
• Fanconi anemia, complementation group D2 (FANCD2)
• Fanconi anemia, complementation group E (FANCE)
• Fanconi anemia, complementation group F (FANCF)
• Fanconi anemia, complementation group G (FANCG)
• Fanconi anemia, complementation group I (FANCI)
• Fanconi anemia, complementation group J (BRIP1)
• LIG4 syndrome (LIG4)
• Microcephaly, growth restriction + increased sister chromatid exchange 2 (TOP3A)
• Nijmegen breakage syndrome (NBN)
• Omenn syndrome (DCLRE1C)
• Severe combined immunodeficiency, Athabascan type (DCLRE1C)
• Werner syndrome (WRN)