Klinische FragestellungPallister-Hall-Syndrom, Differentialdiagnose

NGS +

[Sanger]

Pleiotrope AD vererbte Malformation mit hypothalamischem Hamartom, Hypophysendysfunktion, bifider Epiglottis, Polydactylie, seltener Nieren- oder urogenitale Fehlbildungen

DD eventuell auch Bardet-Biedl Syndrom Gene einbeziehen: BBS1, BBS2, ARL6, BBS4, BBS5, MKKS, BBS7, TTC8, BBS9, BBS10, TRIM32, BBS12, MKS1, CEP290, WDPCP, SDCCAG8, LZTFL1, BBIP1, IFT27

• DD: Bardet-Biedl, Holt-Oram, McKusick-Kaufman, Smith-Lemli-Opitz syndromes
• Allelic: Cone-rod dystrophy 16 (CFAP418)
• Allelic: Greig cephalopolysyndactyly syndrome (GLI3)
• Allelic: Hypothalamic hamartoma, somatic (GLI3)
• Allelic: Polydactyly, postaxial, types A1 + B (GLI3)
• Allelic: Polydactyly, preaxial, type IV (GLI3)
• Allelic: Retinitis pigmentosa 55 (ARL6)
• Allelic: Retinitis pigmentosa 64 (CFAP418)
• Allelic: Retinitis pigmentosa 71 (IFT172)
• Bardet-Biedl syndrome 1, modifier of (ARL6)
• Bardet-Biedl syndrome 11 (TRIM32)
• Bardet-Biedl syndrome 13 (MKS1)
• Bardet-Biedl syndrome 14 (CEP290)
• Bardet-Biedl syndrome 14, modifier of (TMEM67)
• Bardet-Biedl syndrome 15 (WDPCP)
• Bardet-Biedl syndrome 16 (SDCCAG8)
• Bardet-Biedl syndrome 17 (LZTFL1)
• Bardet-Biedl syndrome 18 (BBIP1)
• Bardet-Biedl syndrome 19 (IFT27)
• Bardet-Biedl syndrome 20 (IFT74)
• Bardet-Biedl syndrome 21 (CFAP418)
• Bardet-Biedl syndrome 3 (ARL6)
• Bardet-Biedl syndrome 6 (MKKS)
• Bardet-Biedl syndrome 8 (TTC8)
• Congenital heart defects, hamartomas of tongue + polysyndactyly (WDPCP)
• Curry-Jones syndrome, somatic mosaic (SMO)
• Holt-Oram syndrome (TBX5)
• Joubert syndrome 17 (C5orf42 syn. CPLANE1)
• Joubert syndrome 28 (MKS1)
• Joubert syndrome 5 (CEP290)
• Leber congenital amaurosis 10 (CEP290)
• McKusick-Kaufman syndrome (MKKS)
• Meckel syndrome 1 (MKS1)
• Meckel syndrome 4 (CEP290)
• Muscular dystrophy, limb-girdle, AR 8 (TRIM32)
• Nephronophthisis 15 (CEP164)
• Orofaciodigital syndrome VI (C5orf42 syn. CPLANE1)
• Pallister-Hall syndrome (GLI3)
• Pallister-Hall-like syndrome (SMO)
• Senior-Loken 6 (CEP290)
• Senior-Loken syndrome 7 (SDCCAG8)
• Short-rib thoracic dysplasia 10 with/-out polydactyly (IFT172)
• Smith-Lemli-Opitz syndrome (DHCR7)