Klinische FragestellungRitscher-Schinzel-Syndrom, Differentialdiagnose

NGS +

• Alias: 3C-Syndrom - Craniofacial features, Cerebellar defects, Cardiovascular malformations
• Alias: Dysplasie, kardiale kraniozerebelläre
• Allelic: Craniosynostosis 5, susceptibility to (ALX4)
• Allelic: Hypogonadotropic hypogonadism 5 with/-out anosmia (CHD7)
• Allelic: Leber congenital amaurosis 10 (CEP290)
• Allelic: Nephronophthisis 11 (TMEM67)
• Allelic: Parietal foramina 2 (ALX4)
• Allelic: Spastic paraplegia 8, AD (WASHC5)
• Bardet-Biedl syndrome 13 (MKS1)
• Bardet-Biedl syndrome 14 (CEP290)
• Bardet-Biedl syndrome 14, modifier of (TMEM67)
• CHARGE syndrome (CHD7)
• COACH syndrome 1 (TMEM67)
• COACH syndrome 2 (CC2D2A)
• COACH syndrome 3 (RPGRIP1L)
• Cornelia de Lange syndrome 1 (NNIPBL)
• Cornelia de Lange syndrome 2 (SMC1A)
• Cornelia de Lange syndrome 3 (SMC3)
• Cornelia de Lange syndrome 4 (RAD21)
• Cornelia de Lange syndrome 5 (HDAC8)
• Developmental and epileptic encephalopathy 85, with/-out midline brain defects (SMC1A)
• Developmental delay with short stature, dysmorphic facial features, sparse hair (DPH1)
• Ellis-van Creveld syndrome (EVC)
• Ellis-van Creveld syndrome (EVC2)
• Frontonasal dysplasia 2 (ALX4)
• Frontonasal dysplasia 3 (ALX1)
• Joubert syndrome 1 (INPP5E)
• Joubert syndrome 17 (CPLANE1)
• Joubert syndrome 2 (TMEM216)
• Joubert syndrome 21 (CSPP1)
• Joubert syndrome 23 (KIAA0586)
• Joubert syndrome 24 (TCTN2)
• Joubert syndrome 28 (MKS1)
• Joubert syndrome 3 (AHI)
• Joubert syndrome 4 (NPHP1)
• Joubert syndrome 5 (CEP290)
• Joubert syndrome 6 (TMEM67)
• Joubert syndrome 7 (RPGRIP1L)
• Joubert syndrome 9 (CC2D2A)
• Kabuki syndrome 1 (KMT2D)
• Kabuki syndrome 2 (KDM6A)
• Loucks-Innes syndrome (DPH1)
• Meckel syndrome 1 (MKS1)
• Meckel syndrome 2 (TMEM216)
• Meckel syndrome 3 (TMEM67)
• Meckel syndrome 4 (CEP290)
• Meckel syndrome 5 (RPGRIP1L)
• Meckel syndrome 6 (CC2D2A)
• Meckel syndrome 8 (TCTN2)
• Mental retardation, truncal obesity, retinal dystrophy + micropenis (INPP5E)
• Mungan syndrome (RAD21)
• Nephronophthisis 1, juvenile (NPHP1)
• Orofaciodigital syndrome VI (CPLANE1)
• RHYNS syndrome (TMEM67)
• Ritscher-Schinzel syndrome 1 (WASHC5)
• Ritscher-Schinzel syndrome 2 (CCDC22)
• Ritscher-Schinzel syndrome 3 (VPS35L syn. C16orf62)
• Senior-Loken syndrome 6 (CEP290)
• Senior-Loken syndrome-1 (NPHP1)
• Short-rib thoracic dysplasia 14 with polydactyly (KIAA0586)
• Weyers acrofacial dysostosis (EVC)
• Weyers acrofacial dysostosis (EVC2)