Klinische FragestellungKraniosynostose, häufig mutierte Gene; Differentialdiagnose

NGS +

[Sanger]

Vorzeitige Fusion einer oder mehrerer Schädelnähte, die zu einer sekundären Verzerrung der Schädelform führt, -> variable Schädeldeformationen

• Alias: Fontanelle - craniosynostosis
• Alias: Koronarnaht-Synostose
• Alias: Plagiocephaly, scaphocephaly
• Alias: Premature closure of sutures
• Alias: Synostosis
• Allelic: Achondroplasia (FGFR3)
• Allelic: Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis (FGFR2)
• Allelic: Aortic valve disease 2 (SMAD6)
• 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: Chitayat syndrome (ERF)
• Allelic: Colorectal cancer, somatic (FGFR3)
• Allelic: Craniofacial-skeletal-dermatologic dysplasia (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: Hypogonadotropic hypogonadism 2 with/-out anosmia (FGFR1)
• Allelic: Lacrimoauriculodentodigital [LADD] syndrome (FGFR2, FGFR3)
• Allelic: Muenke syndrome (FGFR3)
• Allelic: Naevus, epidermal, somatic (FGFR3)
• Allelic: Osteoglophonic dysplasia (FGFR1)
• Allelic: Radioulnar synostosis, nonsyndromic (SMAD6)
• Allelic: Scaphocephaly, maxillary retrusion, and mental retardation (FGFR2)
• Allelic: Spermatocytic seminoma, somatic (FGFR3)
• Allelic: Sweeney-Cox syndrome (TWIST1)
• Allelic: Thanatophoric dysplasia, type I, II (FGFR3)
• Craniofrontonasal dysplasia (EFNB1)
• Craniosynostosis 1 (TWIST1)
• Craniosynostosis 3 (TCF12)
• Craniosynostosis 4 (ERF)
• Craniosynostosis 7, susceptibility to (SMAD6)
• Craniosynostosis, nonspecific (FGFR2)
• Craniosynostosis-midfacial hypoplasia-foot abnormalities syndrome (FGFR1, FGFR2)
• Jackson-Weiss syndrome (FGFR1, FGFR2 [FGFR3])
• Pfeiffer syndome (FGFR1, FGFR2)
• Robinow-Sorauf syndrome (TWIST1)
• Saethre-Chotzen syndrome [Acrocephalosyndactyly, type III] (FGFR2)
• Scaphocephaly and Axenfeld-Rieger anomaly (FGFR2)