Klinische FragestellungCHILD-/CK-Syndrom, Differentialdiagnose

NGS +

• Alias: CHILD - Congenital Hemidysplasia with Ichthyosiform nevus + Limb Defects
• Alias: CK syndrome: ID, behavior probl., seizures, cortical malformations, microcephaly
• Allelic: Congenital disorder of glycosylation, type IIr (ATP6AP2)
• Allelic: Costello syndrome (HRAS)
• Allelic: Immunodeficiency 33 (IKBKG)
• Allelic: Incontinentia pigmenti (IKBKG)
• Allelic: Noonan syndrome 3 (KRAS)
• Allelic: Noonan syndrome 6 (NRAS)
• Allelic: Parkinsonism with spasticity, XL (ATP6AP2)
• Alpha-thalassemia/mental retardation syndrome (ATRX)
• CHILD nevus (NSDHL)
• CHILD syndrome (NSDHL)
• CK syndrome: mental retardation, XL, thin body habitus + cort. malformation (NSDHL)
• Chondrodysplasia punctata, XLD (EBP)
• Ectodermal dysplasia + immunodeficiency 1 (IKBKG)
• Intellectual developmental disorder, XL syndromic, Christianson type (SLC9A6)
• Intellectual developmental disorder, XL syndromic, Snyder-Robinson type (SMS)
• Intellectual developmental disorder, XL, syndromic, Hedera type (ATP6A2)
• Lujan-Fryns syndrome (MED12)
• MEND syndrome; Male EBP disorder with Neurologic Defects (EBP)
• Mental retardation, XL syndromic, Raymond type (ZDHHC9)
• Mental retardation-hypotonic facies syndrome, XL (ATRX)
• Methylmalonic aciduria + homocystinuria, cblC type (MMACHC)
• Ohdo syndrome, XL (MED12)
• Opitz-Kaveggia syndrome (MED12)
• Renpenning syndrome (PQBP1)
• Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic (HRAS, KRAS, NRAS)
• Shprintzen-Goldberg syndrome (SKI)