Klinische FragestellungBaller-Gerold-Syndrom, Differentialdiagnose

NGS +

DD: CDAGS s.: Craniosynostosis, clavicular hypoplasia, Anal anomalies, Genitourinary malformations, Skin [porokeratosis] (no gene)

DD: Fetales Valproate-Syndrom, VACTERL (TRAP1, ZIC3)

DD weitere Fanconi-Anämie-Gene: BRCA1 BRCA2 BRIP1 ERCC4 FANCB FANCD2 FANCE FANCF FANCI FANCL FANCM FAAP100 PALB2 RAD51 RAD51C MAD2L2 RFWD3 SLX4 UBE2T XRCC2

DD: Thrombocytopenia-Absent Radius, TAR syndrome (del1q21.1)

• Baller-Gerold syndrome (RECQL4)
• DD add. Fanconi anemia (BRCA1 BRCA2 BRIP1 ERCC4 FANCB FANCD2 FANCE FANCF FANCI FANCL....XRCC2)
• DD: Fetal Valproate syndrome, VACTERL (TRAP1, ZIC3)
• DD: Thrombocytopenia-Absent Radius, TAR syndrome (del1q21.1)
• Allelic: RAPADILINO syndrome (RECQL4)
• Allelic: Robinow-Sorauf syndrome (TWIST1)
• Allelic: Rothmund-Thomson syndrome, type 2 (RECQL4)
• Allelic: Saethre-Chotzen syndrome with/-out eyelid anomalies (TWIST1)
• Allelic: Sweeney-Cox syndrome (TWIST1)
• Craniosynostosis 1 (TWIST1)
• DD: CDAGS s.: Craniosynostosis, clavic. hypopl., Anal anom., Genitourinary malform., Skin (no gene)
• Duane-radial ray syndrome (SALL4)
• Fanconi anemia, complementation group A (FANCA)
• Fanconi anemia, complementation group C (FANCC)
• Fanconi anemia, complementation group G (FANCG)
• Fanconi anemia, complementation groups A-W (FANCB-XRCC2)
• Holt-Oram syndrome (TBX5)
• IVIC syndrome (SALL4)
• Juberg-Hayward syndrome (ESCO2)
• Roberts-SC phocomelia syndrome (ESCO2)