ORPHA:125
Bloom syndrome
Also called BSyn
- Body system
- Skin diseases
- Inheritance pattern
- Autosomal recessive
- Typical age of onset
- Antenatal, Neonatal
- Estimated prevalence
- 1-9 / 100 000 (Specific population)
- Rarity class
- 1-9 / 100 000
ORPHA:125 is classified under "Skin diseases" in the Orphanet nomenclature.
Common signs
- Growth delay
- Intrauterine growth retardation
- Small for gestational age
- Abnormality of the immune system
- Decreased circulating antibody level
- Severe postnatal growth retardation