Klinische FragestellungOmphalozele, Bauchwanddefekt; Differentialdiagnose
Zusammenfassung
Kurzinformation
Ein kuratiertes panel mit 3 bzw. insgesamt 10 Genen zur umfassenden Untersuchung der Diagnose Erblichkeit von Omphalozele, Bauchwanddefekt und Laparochisis
ID
OP6789
Anzahl Gene
2
Akkreditierte Untersuchung
Untersuchte Sequenzlänge
14,0 kb (Core-/Core-canditate-Gene)
15,8 kb (Erweitertes Panel: inkl. additional genes)
15,8 kb (Erweitertes Panel: inkl. additional genes)
Analyse-Dauer
auf Anfrage
Material
- EDTA-Blut (3-5 ml)
Diagnostische Hinweise
NGS +
Genpanel
Infos zur Erkrankung
Klinischer Kommentar
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)
Synonyme
- 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)
Erbgänge, Vererbungsmuster etc.
- AR
- XLR
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
Q79.2
Bioinformatik und klinische Interpretation
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