Klinische FragestellungOmphalozele, Bauchwanddefekt; Differentialdiagnose

NGS +

Nicht-syndromische, durch eine Hernie der Bauchdecke charakterisierte Bauchwandfehlbildung, Nabelschnur-zentriert, hervorstehende Eingeweide durch einen Sack geschützt

S.a. Beckwith-Wiedemann-Syndrom (Exomphalos-Makroglossie-Gigantismus-Syndrom)

• Alias: Exomphalos
• Alias: Laparoschisis
• Alias: Omphalocele
• Allelic: Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis (FGFR2)
• Allelic: Apert syndrome (FGFR2)
• Allelic: Beare-Stevenson cutis gyrata syndrome (FGFR2)
• Allelic: Bent bone dysplasia syndrome (FGFR2)
• Allelic: Brachydactyly, type D + E (HOXD13)
• Allelic: Brachydactyly-syndactyly syndrome (HOXD13)
• Allelic: Cardiac valvular dysplasia, XL (FLNA)
• Allelic: Congenital short bowel syndrome (FLNA)
• Allelic: Craniofacial-skeletal-dermatologic dysplasia (FGFR2)
• Allelic: Craniosynostosis, nonspecific (FGFR2)
• Allelic: Crouzon syndrome (FGFR2)
• Allelic: FG syndrome 2 (FLNA)
• Allelic: Facial clefting, oblique, 1 (SPECC1L)
• Allelic: Hartsfield syndrome 1 (FGFR1)
• Allelic: Hypertelorism, Teebi type (SPECC1L)
• Allelic: Hypogonadotropic hypogonadism 2 with/-out anosmia 1 (FGFR1)
• Allelic: Hypogonadotropic hypogonadism 5 +/- anosmia (CHD7)
• Allelic: IMAGE syndrome (CDKN1C)
• Allelic: Intestinal pseudoobstruction, neuronal (FLNA)
• Allelic: Jackson-Weiss syndrome 1 (FGFR1, FGFR2)
• Allelic: LADD syndrome (FGFR2)
• Allelic: Melnick-Needles syndrome (FLNA)
• Allelic: Opitz GBBB syndrome, type II (SPECC1L)
• Allelic: Osteoglophonic dysplasia (FGFR1)
• Allelic: Pfeiffer syndrome 1 (FGFR1, FGFR2)
• Allelic: Saethre-Chotzen syndrome (FGFR2)
• Allelic: Scaphocephaly + Axenfeld-Rieger anomaly (FGFR2)
• Allelic: Scaphocephaly, maxillary retrusion + mental retardation (FGFR2)
• Allelic: Syndactyly, type V (HOXD13)
• Allelic: Synpolydactyly 1 (HOXD13)
• Allelic: Terminal osseous dysplasia (FLNA)
• Allelic: Trigonocephaly 1 (FGFR1)
• Allelic: Trigonocephaly 2 (FREM1)
• Allelic: Wilms tumor, somatic (GPC3)
• Alllelic: Heterotopia, periventricular, 1 (FLNA)
• Bardet-Biedl syndrome 13 (MKS1)
• Beckwith-Wiedemann syndrome (CDKN1C)
• Bifid nose with/-out anorectal + renal anomalies (FREM1)
• CHARGE syndrome (CHD7)
• Carpenter syndrome (RAB23)
• Donnai-Barrow [facio-oculo-acoustico-renal] syndrome (LRP2)
• Fontaine progeroid syndrome (SLC25A24)
• Frontometaphyseal dysplasia 1 (FLNA)
• IMAGE syndrome (CDKN1C)
• Joubert syndrome 28 (MKS1)
• Keipert syndrome (GPC4)
• Malan syndrome (NFIX)
• Manitoba oculotrichoanal syndrome (FREM1)
• Marshall-Smith syndrome (NFIX)
• Meckel syndrome 1 (MKS1)
• Otopalatodigital syndrome, type I (FLNA)
• Otopalatodigital syndrome, type II (FLNA)
• Shprintzen-Goldberg syndrome (SKI)
• Simpson-Golabi-Behmel syndrome, type 1 (GPC3)