Klinische FragestellungPränatales Joubert-Syndromspektrum, Differentialdiagnose

NGS +

Joubert-Syndrom + verwandte Störungen sind Entwicklungsverzögerung/mehrfache kongenitale Fehlbildungs-Syndrome, mit obligatem Merkmal "Backenzahnzeichen" als komplexe Mittelhirn/Hinterhirn-Fehlbildung (zerebelläre Vermis-Hypodysplasie, Verdickung + Fehlstellung der oberen Kleinhirnstiele, tiefe interpedunkuläre Fossa)

• Alias: Cerebellooculorenal syndrome
• Alias: Cerebellooculorenal syndrome 1
• Alias: Cerebelloparenchymal disorder IV
• Alias: Joubert-Boltshauser syndrome
• Allelic: Bardet-Biedl syndrome 14, modifier of (TMEM67)
• Allelic: Basal cell naevus syndrome (SUFU)
• Allelic: Cone-rod dystrophy 20 (POC1B)
• Allelic: Hydrolethalus syndrome 2 (KIF7)
• Allelic: Leber congenital amaurosis 10 (CEP290)
• Allelic: Medulloblastoma, desmoplastic (SUFU)
• Allelic: Meningioma, familial, susceptibility to (SUFU)
• Allelic: Mental retardation, truncal obesity, retinal dystrophy + micropenis (INPP5E)
• Allelic: Nephronophthisis 1, juvenile (NPHP1)
• Allelic: Nephronophthisis 11 (TMEM67)
• Allelic: Nephronophthisis 12 (TTC21B)
• Allelic: Nephronophthisis 14 (ZNF423)
• Allelic: Nephronophthisis 3 (NPHP3)
• Allelic: Retinitis pigmentosa 23 (OFD1)
• Allelic: Retinitis pigmentosa 71 (IFT172)
• Allelic: Retinitis pigmentosa 83 (ARL3)
• Acrocallosal syndrome (KIF7)
• Al-Gazali-Bakalinova syndrome (KIF7)
• Bardet-Biedl syndrome 13 (MKS1)
• Bardet-Biedl syndrome 14 (CEP290)
• COACH syndrome (CC2D2A, RPGRIP1L, TMEM67)
• Greig cephalopolysyndactyly syndrome (GLI3)
• Hydrolethalus syndrome (HYLS1)
• Hydrolethalus syndrome 2 (KIF7)
• Joubert syndrome 1 (INPP5E)
• Joubert syndrome 10 (OFD1)
• Joubert syndrome 12 (KIF7)
• Joubert syndrome 13 (TCTN1)
• Joubert syndrome 14 (TMEM237)
• Joubert syndrome 15 (CEP41)
• Joubert syndrome 16 (TMEM138)
• Joubert syndrome 17 (CPLANE1 syn. C5orf42)
• Joubert syndrome 18 (TCTN3)
• Joubert syndrome 19 (ZNF423)
• Joubert syndrome 2 (TMEM216)
• Joubert syndrome 20 (TMEM231)
• Joubert syndrome 21 (CSPP1)
• Joubert syndrome 22 (PDE6D)
• Joubert syndrome 23 (KIAA0586)
• Joubert syndrome 24 (TCTN2)
• Joubert syndrome 25 (CEP104)
• Joubert syndrome 27 (B9D1)
• Joubert syndrome 28 (MKS1)
• Joubert syndrome 3 (AHI1)
• Joubert syndrome 30 (ARMC9)
• Joubert syndrome 31 (CEP120)
• Joubert syndrome 32 (SUFU)
• Joubert syndrome 33 (PIBF1)
• Joubert syndrome 34 (B9D2)
• Joubert syndrome 35 (ARL3)
• Joubert syndrome 36 (FAM149B1)
• Joubert syndrome 4 (NPHP1)
• Joubert syndrome 5 (CEP290)
• Joubert syndrome 6 (TMEM67)
• Joubert syndrome 7 (RPGRIP1L)
• Joubert syndrome 8 (ARL13B)
• Joubert syndrome 9 (CC2D2A)
• Leber congenital amaurosis 10 (CEP290)
• 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 7 (NPHP3)
• Meckel syndrome 8 (TCTN2)
• Meckel syndrome 9 (B9D1)
• Nephronophthisis 1, juvenile (NPHP1)
• Orofaciodigital syndrome I (OFD1)
• Orofaciodigital syndrome IV (TCTN3)
• Orofaciodigital syndrome VI (CPLANE1 syn. C5orf42)
• Orofaciodigital syndrome XIV (C2CD3)
• Orofaciodigital syndrome XV (KIAA0753)
• Orofaciodigital syndrome XVI (TMEM107)
• Pallister-Hall syndrome (GLI3)
• Polydactyly, postaxial, types A1 + B (GLI3)
• Polydactyly, preaxial, type IV (GLI3)
• RHYNS syndrome (TMEM67)
• Renal-hepatic-pancreatic dysplasia 1 (NPHP3)
• Senior-Loken syndrome (POC1B)
• Senior-Loken syndrome 1 (NPHP1)
• Senior-Loken syndrome 6 (CEP290)
• Short-rib thoracic dysplasia 10 with/-out polydactyly (IFT172)
• Short-rib thoracic dysplasia 13 with/-out polydactyly (CEP120)
• Short-rib thoracic dysplasia 14 with polydactyly (KIAA0586)
• Short-rib thoracic dysplasia 4 with/-out polydactyly (TTC21B)
• Simpson-Golabi-Behmel syndrome, type 2 (OFD1)