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ErkrankungFGFR-Kraniosynostose-Syndrome, Differentialdiagnose

Zusammenfassung

Kurzinformation

Umfassendes differentialdiagnostisches panel für FGFR-Kraniosynostose-Syndrom mit zusammen genommen 17 kuratierten Genen gemäß klinischer Verdachtsdiagnose

ID
FP0070
Anzahl Gene
17 Akkreditierte Untersuchung
Untersuchte Sequenzlänge
9,1 kb (Core-/Basis-Gene)
39,8 kb (Erweitertes Panel)
Analyse-Dauer
auf Anfrage
Material
  • EDTA-Blut (3-5 ml)
Diagnostische Hinweise

NGS +

 

Genpanel

Ausgewählte Gene

NameExon-Länge (bp)OMIM-GErbgang
EFNB11041XLD
FGFR12469AD und/oder Dig
FGFR22466AD und/oder Sus
FGFR32421AD und/oder AR und/oder SMu
TWIST1609AD
CD961710AD
ERF1647AD
FLNA7920XL
GLI34743AD
MSX2804AD
POR2043AR
RAB23714AR
RECQL43628AR
SKI2187AD
TCF122121AD
TGFBR11512AD
TGFBR21704AD

Infos zur Erkrankung

Klinischer Kommentar

illness_ClinicalComment_FP0070

 

Synonyme
  • Alias: Koronarnaht-Synostose
  • Allelic: Achondroplasia (FGFR3)
  • Allelic: Bladder cancer, somatic (FGFR3)
  • Allelic: Brachydactyly, type A1 (IHH)
  • Allelic: CATSHL syndrome (FGFR3)
  • Allelic: Cardiac valvular dysplasia, XL (FLNA)
  • Allelic: Cervical cancer, somatic (FGFR3)
  • Allelic: Chitayat syndrome [respiratory distress, facial dysmorphism, digital anomalies] (ERF)
  • Allelic: Colorectal cancer, hereditary nonpolyposis, type 6 (TGFBR2)
  • Allelic: Colorectal cancer, somatic (FGFR3)
  • Allelic: Congenital short bowel syndrome (FLNA)
  • Allelic: Disordered steroidogenesis due to cytochrome P450 oxidoreductase (POR)
  • Allelic: Encephalocraniocutaneous lipomatosis, somatic mosaic (FGFR1)
  • Allelic: Esophageal cancer, somatic (TGFBR2)
  • Allelic: FG syndrome 2 (FLNA)
  • Allelic: Frontometaphyseal dysplasia 1 (FLNA)
  • Allelic: Heterotopia, periventricular, 1 (FLNA)
  • Allelic: Hypochondroplasia (FGFR3)
  • Allelic: Hypogonadotropic hypogonadism 2 with/_out anosmia (FGFR1)
  • Allelic: Intestinal pseudoobstruction, neuronal (FLNA)
  • Allelic: Melnick-Needles syndrome (FLNA)
  • Allelic: Multiple self-healing squamous epithelioma, susceptibility to (TGFBR1)
  • Allelic: Nevus, epidermal, somatic (FGFR3)
  • Allelic: Pallister-Hall syndrome (GLI3)
  • Allelic: Parietal foramina 1 (MSX2)
  • Allelic: Parietal foramina with cleidocranial dysplasia (MSX2)
  • Allelic: Polydactyly, postaxial, types A1 + B (GLI3)
  • Allelic: Polydactyly, preaxial, type IV (GLI3)
  • Allelic: RAPADILINO syndrome (RECQL4)
  • Allelic: Rothmund-Thomson syndrome, type 2 (RECQL4)
  • Allelic: SADDAN [severe achondroplasia with developmental delay + acanthosis nigricans] (FGFR3)
  • Allelic: Spermatocytic seminoma, somatic (FGFR3)
  • Allelic: Terminal osseous dysplasia (FLNA)
  • Allelic: Thanatophoric dysplasia, type I (FGFR3)
  • Allelic: Thanatophoric dysplasia, type II (FGFR3)
  • Acampomelic campomelic dysplasia (SOX9)
  • Acrocapitofemoral dysplasia (IHH)
  • Antley-Bixler syndrome with genital anomalies + disordered steroidogenesis (POR)
  • Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis (FGFR2)
  • Apert syndrome (FGFR2)
  • Baller-Gerold syndrome (RECQL4)
  • Beare-Stevenson cutis gyrata syndrome (FGFR2)
  • Bent bone dysplasia syndrome (FGFR2)
  • C syndrome [Opitz trigonocephaly syndrome] (CD96)
  • Campomelic dysplasia (SOX9)
  • Campomelic dysplasia with autosomal sex reversal (SOX9)
  • Carpenter syndrome [Acrocephalopolysyndactyly type II] (RAB23)
  • Craniofacial-skeletal-dermatologic dysplasia (FGFR2)
  • Craniofrontonasal dysplasia (EFNB1)
  • Craniosynostosis 1 (TWIST1)
  • Craniosynostosis 2 (MSX2)
  • Craniosynostosis 3 (TCF12)
  • Craniosynostosis 4 (ERF)
  • Craniosynostosis, nonspecific (FGFR2)
  • Crouzon syndrome (FGFR2)
  • Crouzon syndrome with acanthosis nigricans (FGFR3)
  • Greig cephalopolysyndactyly syndrome (GLI3)
  • Hartsfield syndrome (FGFR1)
  • Jackson-Weiss syndrome (FGFR1, FGFR2)
  • LADD syndrome (FGFR2, FGFR3)
  • Loeys-Dietz syndrome 1 (TGFBR1)
  • Loeys-Dietz syndrome 2 (TGFBR2)
  • Muenke syndrome (FGFR3)
  • Osteoglophonic dysplasia (FGFR1)
  • Otopalatodigital syndrome, type I (FLNA)
  • Otopalatodigital syndrome, type II (FLNA)
  • Pfeiffer syndrome (FGFR1, FGFR2)
  • Robinow-Sorauf syndrome (TWIST1)
  • Saethre-Chotzen syndrome (FGFR2)
  • Saethre-Chotzen syndrome with/-out eyelid anomalies (TWIST1)
  • Scaphocephaly + Axenfeld-Rieger anomaly (FGFR2)
  • Scaphocephaly, maxillary retrusion + mental retardation (FGFR2)
  • Shprintzen-Goldberg [craniosynostosis] syndrome (SKI)
  • Sweeney-Cox s. [facial dysost., cleft palate/velopharyngeal insuff., low-set cupped ears] (TWIST1)
  • Trigonocephaly 1 (FGFR1)
Erbgänge, Vererbungsmuster etc.
  • AD
  • AD und/oder AR und/oder SMu
  • AD und/oder Dig
  • AD und/oder Sus
  • AR
  • XL
  • XLD
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code
Q75.0

Bioinformatik und klinische Interpretation

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