Klinische FragestellungFGFR-Kraniosynostose-Syndrom, Differentialdiagnose

NGS +

illness_ClinicalComment_FP0070

• 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)