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Interdisciplinary CompetenceMolecular Diagnostics
Know how in the analysis of genetic material.
For the benefit of patients.

IllnessOmphalocele, laparoschisis; differential diagnosis

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Summary

Short information

A curated panel containing 3 core candidate genes and altogether 10 curated genes for the comprehensive analysis of the heritability of Omphalocele, umbilical hernia and laparoschisis

ID
OP6789
Number of genes
3 Accredited laboratory test
Examined sequence length
14,0 kb (Core-/Core-canditate-Genes)
23,7 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
Material
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications

NGS +

 

Gene panel

Selected genes

NameExon Length (bp)OMIM-GReferenz-Seq.Heredity
LRP213968NM_004525.3AR
FLNA7920NM_001456.4XL
GPC31743NM_004484.4XLR

Informations about the disease

Clinical Comment

Non-syndromic, abdominal wall malformation characterized by a hernia of the abdominal wall, centered on the umbilical cord, in which the protruding viscera are protected by a sac.

See also Beckwith-Wiedemann Syndrom (Exomphalos-macroglossia-gigantism syndrome)

 

Synonyms
  • 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)
Heredity, heredity patterns etc.
  • AR
  • XL
  • XLR
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined