ErkrankungChondrodysplasia punctata, Differentialdiagnose

NGS +

[Sanger]

Gruppe von Erkrankungen

• Alias: Arylsulfatase E Deficiency (CDPX1)
• Alias: Brachytelephalangic chondrodysplasia punctata, BCDP
• Alias: Chondrodysplasia punctata, CDP
• Alias: Chondrodysplasie p.
• Allelic: Cataracts, spastic paraparesis + speech delay (FAR1)
• Allelic: Pelger-Huet anomaly (LBR)
• Allelic: Peroxisome biogenesis disorder 2A, Zellweger (PEX5)
• Allelic: Peroxisome biogenesis disorder 2B (PEX5)
• Allelic: Reynolds syndrome (LBR)
• Antley-Bixler syndrome with genital anomalies + disordered steroidogenesis (POR)
• CK syndrome: Mental retardation, XL, thin habitus, cortical malformation (NSDHL)
• Chondrodysplasia punctata, XLD (EBP)
• Chondrodysplasia punctata, rhizomelic, type 2 (GNPAT)
• Congenital hemidysplasia, ichthyosis, limb defects (CHILD) syndrome (NSDHL)
• Conradi-Hünermann syndrome, Happle syndrome (EBP)
• Desmosterolosis (DHCR25)
• Disordered steroidogenesis due to cytochrome P450 oxidoreductase (POR)
• Greenberg skeletal dysplasia (LBR)
• Keutel syndrome: Pulm. stenoses, brachytelephalangy, deafness, abnormal cartilage ossification (MGP)
• Lathosterolosis (SC5D)
• Lipodystrophy, congenital generalized, type 1 (AGPS)
• Male EBP disorder with neurologic defects [MEND] syndrome (EBP)
• Microcephaly, congenital cataract + psoriasiform dermatitis (MSMO1)
• Pelger-Huet anomaly with mild skeletal anomalies (LBR)
• Peroxisomal fatty acyl-CoA reductase 1 disorder (FAR1)
• Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency (GGCX)
• Pulmonic stenoses, brachytelephalangy, deaf, abnormal cartilage ossification/calcification (MGP)
• Refsum peroxisomal disease 9B (PEX7)
• Rhizomelic chondrodysplasia punctata, type 1 (PEX7)
• Rhizomelic chondrodysplasia punctata, type 2 (GNPAT)
• Rhizomelic chondrodysplasia punctata, type 3 (AGPS)
• Rhizomelic chondrodysplasia punctata, type 4 (FAR1)
• Rhizomelic chondrodysplasia punctata, type 5 (PEX5)
• Ritscher-Schinzel syndrome 3 (VPS35L)
• Vitamin K-dependent clotting factors, combined deficiency of, 1 (GGCX)
• XLD chondrodysplasia punctata as phenocopy of warfarin embryopathy (VKORC1)