Klinische FragestellungPfeiffer-Syndrom 1-3
Zusammenfassung
Ein kuratiertes panel mit 3 Genen zur umfassenden Untersuchung der Verdachtsdiagnose Pfeiffer-Syndrom 1-3
7,4 kb (Erweitertes Panel: inkl. additional genes)
- EDTA-Blut (3-5 ml)
NGS +
[Sanger]
Genpanel
Infos zur Erkrankung
Akrozephalosyndaktylie mit Kraniosynostose, Mittelgesichtshypoplasie, Hand- + Fußfehlbildung, breites Spektrum an klinischem Ausprägung/Stärke. Die meisten Betroffenen zeigen verschiedene andere assoziierte Manifestationen.
DD: Apert-Syndrom, Beare-Stevenson-Syndrom, Crouzon-Syndrom, Isolierte Koronalsynostose; Jackson-Weiss-Syndrom (FGFR2-Gen).
Kraniofazial-skelettale dermatologisch-dermatologische Dysplasie (FGFR2-Gen).
Crouzon-Syndrom mit Acanthosis nigricans (FGFR3-Gen).
Muenke-Syndrom (isolierte Koronalsynostose; p.Pro250Arg-Mutation im FGFR3-Gen).
- Alias: Craniofacial-skeletal-dermatologic dysplasia
- Allelic: Achondroplasia (FGFR3)
- 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: Bladder cancer, somatic (FGFR3)
- Allelic: CATSHL syndrome (FGFR3)
- Allelic: Cervical cancer, somatic (FGFR3)
- Allelic: Colorectal cancer, somatic (FGFR3)
- Allelic: Craniofacial-skeletal-dermatologic dysplasia (FGFR2)
- Allelic: Craniosynostosis, nonspecific (FGFR2)
- Allelic: Crouzon syndrome (FGFR2)
- Allelic: Crouzon syndrome with acanthosis nigricans (FGFR3)
- Allelic: Encephalocraniocutaneous lipomatosis, somatic mosaic (FGFR1)
- Allelic: Gastric cancer, somatic (FGFR2)
- Allelic: Hartsfield syndrome (FGFR1)
- Allelic: Hypochondroplasia (FGFR3)
- Allelic: Hypogonadotropic hypogonadism 2 with/-out anosmia (FGFR1)
- Allelic: Jackson-Weiss syndrome (FGFR1)
- Allelic: Jackson-Weiss syndrome (FGFR2)
- Allelic: LADD syndrome (FGFR2)
- Allelic: LADD syndrome (FGFR3)
- Allelic: Muenke syndrome (FGFR3)
- Allelic: Nevus, epidermal, somatic (FGFR3)
- Allelic: Osteoglophonic dysplasia (FGFR1)
- Allelic: SADDAN (FGFR3)
- Allelic: Saethre-Chotzen syndrome (FGFR2)
- Allelic: Scaphocephaly + Axenfeld-Rieger anomaly (FGFR2)
- Allelic: Scaphocephaly, maxillary retrusion + mental retardation (FGFR2)
- Allelic: Spermatocytic seminoma, somatic (FGFR3)
- Allelic: Thanatophoric dysplasia, type I (FGFR3)
- Allelic: Thanatophoric dysplasia, type II (FGFR3)
- Allelic: Trigonocephaly 1 (FGFR1)
- Pfeiffer syndrome (FGFR1)
- Pfeiffer syndrome (FGFR2)
- AD
- Multiple OMIM-Ps
Bioinformatik und klinische Interpretation
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