Immuno-osseous dysplasia
Autoszomális recesszív
A group of conditions, including cartilage-hair hypoplasia (RMRP) and Schimke immuno-osseous dysplasia (SMARCAL1), that combine skeletal dysplasia with immune deficiency.
Mit változtat a diagnózis
Knowing the diagnosis guides avoidance of live vaccines, infection prevention and monitoring of the kidneys, blood counts and cancer risk.
5 kapcsolódó altípust tartalmaz ↓Altípusok elrejtése ↑
- cartilage-hair hypoplasia
- congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome
- metaphyseal dysplasia without hypotrichosis
- Schimke immuno-osseous dysplasia
- skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome
