ErkrankungHydrolethalus-Syndrom, Differentialdiagnose

NGS +

Schweres fetales Missbildungssyndrom: kraniofaziale dysmorphe Merkmale, zentrales Nervensystem, Herz, Atemwege, Anomalien der Gliedmaßen

• Sy: Polydactyly + central nervous system malformation
• Allelic: Acrocallosal syndrome (KIF7)
• Allelic: Al-Gazali-Bakalinova syndrome (KIF7)
• Allelic: Bardet-Biedl syndrome 13 (MKS1)
• Allelic: Bardet-Biedl syndrome 14 (CEP290)
• Allelic: Bardet-Biedl syndrome 14, modifier of (TMEM67)
• Allelic: COACH syndrome (RPGRIP1L)
• Allelic: COACH syndrome 1 (TMEM67)
• Allelic: COACH syndrome 2 (CC2D2A)
• Allelic: Greig cephalopolysyndactyly syndrome (GLI3)
• Allelic: Joubert syndrome 12 (KIF7)
• Allelic: Joubert syndrome 14 (TMEM237)
• Allelic: Joubert syndrome 15 (CEP41)
• Allelic: Joubert syndrome 16 (TMEM138)
• Allelic: Joubert syndrome 17 (C5orf42 syn. CPLANE1)
• Allelic: Joubert syndrome 18 (TCTN3)
• Allelic: Joubert syndrome 2 (TMEM216)
• Allelic: Joubert syndrome 20 (TMEM231)
• Allelic: Joubert syndrome 21 (CSPP1)
• Allelic: Joubert syndrome 23 (KIAA0586)
• Allelic: Joubert syndrome 24 (TCTN2)
• Allelic: Joubert syndrome 27 (B9D1)
• Allelic: Joubert syndrome 28 (MKS1)
• Allelic: Joubert syndrome 29 (TMEM107)
• Allelic: Joubert syndrome 3 (AHI1)
• Allelic: Joubert syndrome 31 (CEP120)
• Allelic: Joubert syndrome 34 (B9D2)
• Allelic: Joubert syndrome 5 (CEP290)
• Allelic: Joubert syndrome 6 (TMEM67)
• Allelic: Joubert syndrome 7 (RPGRIP1L)
• Allelic: Joubert syndrome 9 (CC2D2A)
• Allelic: Leber congenital amaurosis 10 (CEP290)
• Allelic: Nephronophthisis 11 (TMEM67)
• Allelic: Orofaciodigital syndrome IV (TCTN3)
• Allelic: Orofaciodigital syndrome VI (C5orf42 syn. CPLANE1)
• Allelic: Orofaciodigital syndrome XVI (TMEM107)
• Allelic: Polydactyly, postaxial, types A1 + B (GLI3)
• Allelic: Polydactyly, preaxial, type IV (GLI3)
• Allelic: RHYNS syndrome (TMEM67)
• Allelic: Senior-Loken syndrome 6 (CEP290)
• Allelic: Short-rib thoracic dysplasia 13 with/-out polydactyly (CEP120)
• Allelic: Short-rib thoracic dysplasia 14 with polydactyly (KIAA0586)
• Hydrolethalus syndrome 2 (KIF7)
• Hydrolethalus syndrome, lethal (HYLS1)
• Meckel syndrome 1 (MKS1)
• Meckel syndrome 10 (B9D2)
• Meckel syndrome 11 (TMEM231)
• Meckel syndrome 13 (TMEM107)
• Meckel syndrome 2 (TMEM216)
• Meckel syndrome 3 (TMEM67)
• Meckel syndrome 4 (CEP290)
• Meckel syndrome 5 (RPGRIP1L)
• Meckel syndrome 6 (CC2D2A)
• Meckel syndrome 8 (TCTN2)
• Meckel syndrome 9 (B9D1)
• Pallister-Hall syndrome (GLI3)
• Smith-Lemli-Opitz syndrome (DHCR7)