Klinische FragestellungPränatale Holoprosenzephalie, Differentialdiagnose

NGS +

Komplexe Hirnfehlbildung infolge unvollständiger Spaltung des Prosenzephalons zwischen dem 18.-28. Tag der Schwangerschaft, die das Vorderhirn + Gesicht betrifft und zu neurologischen + Gesichtsfehlbildungen unterschiedlichen Schweregrads führt

• Alias: Prenatal cyclopia
• Alias: Prenatal signs of arhinencephaly
• Allelic: Basal cell nevus syndrome (PTCH1)
• Allelic: Basal cell nevus syndrome (SUFU)
• Allelic: Brain malformations [panelapp] (PLCH1)
• Allelic: Jackson-Weiss syndrome (FGFR1)
• Allelic: Medulloblastoma, desmoplastic (SUFU)
• Allelic: Severe developmental delay [panelapp] (PLCH1)
• Allelic: Vissers-Bodmer syndrome (CNOT1)
• Cornelia de Lange syndrome 3 (SMC3)
• Cornelia de Lange syndrome 4 (RAD21)
• Culler-Jones syndrome (GLI2)
• Genitourinary and/or/brain malformation syndrome (PPP1R12A)
• Hartsfield syndrome (FGFR1)
• Holoprosencephaly 10 (DISP1)
• Holoprosencephaly 11 (CDON)
• Holoprosencephaly 12, with/-out pancreatic agenesis (CNOT1)
• Holoprosencephaly 13, XL (STAG2)
• Holoprosencephaly 2 (SIX3)
• Holoprosencephaly 3 (SHH)
• Holoprosencephaly 4 (TGIF1)
• Holoprosencephaly 5 (ZIC2)
• Holoprosencephaly 7 (PTCH1)
• Holoprosencephaly 9 (GLI2)
• Holoprosencephaly spectrum [panelapp] (PLCH1)
• Hypogonadotropic hypogonadism 2 with/-out anosmia (FGFR1)
• Hypogonadotropic hypogonadism 6 with or without anosmia (FGF8)
• Joubert syndrome 32 (SUFU)
• Kabuki syndrome 1 (KMT2D)
• Microcephaly 7, primary, AR (STIL)
• Microphthalmia with coloboma 5 (SHH)
• Mullegama-Klein-Martinez syndrome (STAG2)
• Mungan syndrome: megaduodenum, Barrett esophagus, different cardiac abnormalities (RAD21)
• Neurodevelopmental disorder with nonspecific brain abnormalities with/-out seizures (DLL1)
• Neurofacioskeletal syndrome with/-out renal agenesis (HS2ST1)
• Schizencephaly (SHH, SIX3)
• Single median maxillary central incisor (SHH)
• Smith-Lemli-Opitz syndrome (DHCR7)
• Steinfeld syndrome [GeneReviews] (CDON)
• Stromme syndrome (CENPF)