Klinische FragestellungKnorpel-Haar-Hypoplasie-/anauxetische Dysplasie-Spektrum, Differentialdiagnose

NGS +

illness_ClinicalComment_MP6277

• Alias: Cartilage-hair hypoplasia-like-skeletal dysplasia without hypotrichosis syndrome
• Alias: Knorpel-Haar-Hypoplasie
• Alias: Metaphysäre Dysplasie ohne Hypotrichose
• Alias: Spondyloepimetaphyseal dysplasia, Menger type (RMRP)
• Alias: Spondyloepimetaphyseal dysplasia, anauxetic type
• Allelic: Failure of tooth eruption, primary (PTH1R)
• Anauxetic dysplasia 1 (RMRP)
• Anauxetic dysplasia 2 (POP1)
• Anauxetic dysplasia 3 (NEPRO)
• Aplastic anemia, susceptibility to (SBDS)
• Cartilage-hair hypoplasia (RMRP)
• Chondrodysplasia, Blomstrand type (PTH1R)
• Combined cellular + humoral immune defects with granulomas (RAG1, RAG2)
• Eiken syndrome (PTH1R)
• Metaphyseal chondrodysplasia, Murk Jansen type (PTH1R)
• Metaphyseal chondrodysplasia, Schmid type (COL10A1)
• Metaphyseal dysplasia without hypotrichosis (RMRP)
• Omenn syndrome (DCLRE1C, RAG1, RAG2)
• Schimke immunoosseous dysplasia (SMARCAL1)
• Severe combined immunodeficiency, Athabascan type (DCLRE1C)
• Severe combined immunodeficiency, B cell-negative (RAG1, RAG2)
• Shwachman-Diamond syndrome (SBDS)
• a/b T-cell lymphopenia with g/d T-cell expansion, severe cytomegalovirus infection, autoimm. (RAG1)