IllnessPrenatal Dandy-Walker malformation, differential diagnosis

NGS +

[Sanger]

Association of 3 signs: hydrocephalus, partial/complete absence of cerebellar vermis, posterior fossa cyst contiguous with the fourth ventricle, presenting early in life with hydrocephalus, bulging occiput, posterior fossa signs like cranial nerve palsies, nystagmus, ataxia

• Sympt.: Hypoplasia + upward rotation of cerebellar vermis, cystic dilation 4.th ventricle
• Alias: Dandy-Walker complex
• Alias: [Isolated] Dandy-Walker malformation
• Allelic: Deafness, AD 65 + AR 86 (TBC1D24)
• Allelic: Developmental + epileptic encephalopathy 16 (TBC1D24)
• Allelic: Epilepsy, rolandic, with proxysmal exercise-induce dystonia + writer's cramp (TBC1D24)
• Allelic: Focal segmental glomerulosclerosis 10 (LMX1B)
• Allelic: Hypogonadotropic hypogonadism 5 with/-out anosmia (CHD7)
• Allelic: Myoclonic epilepsy, infantile, familial (TBC1D24)
• Allelic: Nephronophthisis 13 (WDR19)
• Allelic: Neurodegeneration with brain iron accumulation 1 (PANK2)
• Allelic: Retinitis pigmentosa 80 (IFT140)
• Allelic: Retinitis pigmentosa 81 (IFT43)
• Allelic: Spastic paraplegia 8, AD (WASHC5)
• Alkuraya-Kucinskas syndrome (KIAA1109)
• Axenfeld-Rieger syndrome, type 3 (FOXC1)
• Beckwith-Wiedemann syndrome (CDKN1C)
• Bohring-Opitz syndrome (ASXL1)
• CHARGE syndrome (CHD7)
• CPT II deficiency, lethal neonatal + infantile (CPT2)
• Chondrodysplasia punctata, XLD (EBP)
• Coffin-Siris syndrome 1 (ARID1B
• Congenital disorder of glycosylation, type Ia (PMM2)
• Cranioectodermal dysplasia (IFT122)
• Cranioectodermal dysplasia 2 (WDR35)
• Cranioectodermal dysplasia 3 (IFT43)
• Cranioectodermal dysplasia 4 (WDR19)
• Cutis laxa, AR, type IIA (ATP6V0A2)
• DOORS syndrome (TBC1D24)
• Dandy-Walker association (LAMC1)
• Dandy-Walker association (NID1)
• Dandy-Walker malformation [panelapp] (EXOC3L2)
• Developmental delay with short stature, dysmorphic facial features, sparse hair (DPH1)
• Ellis-van Creveld syndrome (EVC)
• Ellis-van Creveld syndrome (EVC2)
• Fumarase deficiency (FH)
• HARP syndrome (PANK2)
• Hydrocephalus, focal epilepsy + hemiparesis [?panelapp] (NID1)
• Joubert syndrome 10 (OFD1)
• Kabuki syndrome 1 (KMT2D)
• Leiomyomatosis + renal cell cancer (FH)
• Luscan-Lumish syndrome (SETD2)
• MEND syndrome (EBP)
• Mental retardation, XL syndromic 5 (AP1S2)
• Molybdenum cofactor deficiency A (MOCS1)
• Molybdenum cofactor deficiency B (MOCS2)
• Molybdenum cofactor deficiency C (GPHN)
• Multiple congenital anomalies-hypotonia-seizures syndrome 1 (PIGN)
• Nail-patella syndrome (LMX1B)
• Opitz GBBB syndrome, type I (MID1)
• Orofaciodigital syndrome I (OFD1)
• Peters-plus syndrome (B3GLCT)
• Ritscher-Schinzel syndrome 1 (WASHC5)
• Ritscher-Schinzel syndrome 2 (CCDC22)
• Senior-Loken syndrome 8 (WDR19)
• Short-rib thoracic dysplasia 16 with/-out polydactyly (IFT52)
• Short-rib thoracic dysplasia 18 with polydactyly (IFT43)
• Short-rib thoracic dysplasia 5 with/-out polydactyly (WDR19)
• Short-rib thoracic dysplasia 7 with or without polydactyly (WDR35)
• Short-rib thoracic dysplasia 9 with/-out polydactyly (IFT140)
• Simpson-Golabi-Behmel syndrome, type 2 (OFD1)
• Smith-Lemli-Opitz syndrome (DHCR7)
• Structural brain anomalies with impaired intellectual development + craniosynostosis (ZIC1)
• Weyers acrofacial dysostosis (EVC)
• Weyers acrofacial dysostosis (EVC2)
• White-Sutton syndrome (POGZ)
• Wrinkly skin syndrome (ATP6V0A2)