Klinische FragestellungJackson-Weiss-Syndrom

NGS +

[Sanger]

Fussfehlbildungen (Tarsal- + Mittelfussfussfusionen; kurze, breite, nach medial abweichende Grosszehen), bei einigen Patienten Kraniosynostose mit Gesichtsanomalien; Hände bei Betroffenen normal

• 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 or without anosmia (FGFR1)
• Allelic: LADD syndrome (FGFR2, FGFR3)
• Allelic: Muenke syndrome (FGFR3)
• Allelic: Naevus, epidermal, somatic (FGFR3)
• Allelic: Osteoglophonic dysplasia (FGFR1)
• Allelic: Pfeiffer syndrome (FGFR1, FGFR2)
• Allelic: Saethre-Chotzen syndrome (FGFR2)
• Allelic: Scaphocephaly and Axenfeld-Rieger anomaly (FGFR2)
• Allelic: Scaphocephaly, maxillary retrusion, and mental retardation (FGFR2)
• Allelic: Spermatocytic seminoma, somatic (FGFR3)
• Allelic: Thanatophoric dysplasia, type I, II (FGFR3)
• Allelic: Trigonocephaly 1 (FGFR1)
• Craniosynostosis-midfacial hypoplasia-foot abnormalities syndrome (FGFR1, FGFR2)
• Jackson-Weiss syndrome (FGFR1, FGFR2 [FGFR3])