ErkrankungChoanalatresie, Differentialdiagnose

NGS +

[Sanger]

Kongenitale Anomalie der hinteren Nasenatmungswege mit Obstruktion (unilateral/bilateral), klinische Manifestationen von akuter Atemnot bis zu chronischer Nasenobstruktion

• Alias: Atresia choanae, Choanal stenosis
• Allelic: Achondroplasia (FGFR3)
• Allelic: Bent bone [dysplasia] syndrome (FGFR2)
• Allelic: Bladder cancer, somatic (FGFR3)
• Allelic: Cervical cancer, somatic (FGFR3)
• Allelic: Colorectal cancer, somatic (FGFR3)
• Allelic: Gastric cancer, somatic (FGFR2)
• Allelic: Hypochondroplasia (FGFR3)
• Allelic: Hypogonadotropic hypogonadism 5 with/-out anosmia (CHD7)
• Allelic: Hypothyroidism, thyroidal/athyroidal, spiky hair, cleft palate (FOXE1)
• Allelic: Leukodystrophy, hypomyelinating, 11 (POLR1C)
• Allelic: Nevus, epidermal, somatic (FGFR3)
• Allelic: SADDAN (FGFR3)
• Allelic: Severe achondroplasia with developmental delay and acanthosis nigricans, SADDAN (FGFR3)
• Allelic: Spermatocytic seminoma, somatic (FOXE1)
• Allelic: Thanatophoric dysplasia, type I, II (FGFR3)
• Allelic: Thanatophoric dysplasia, type I-II (FGFR3)
• Allelic: Thyroid cancer, nonmedullary, 4 (FGFR3)
• Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis (FGFR2)
• Apert syndrome (FGFR2)
• Bamforth-Lazarus syndrome (FOXE1)
• Beare-Stevenson cutis gyrata syndrome (FGFR2)
• Blepharocheilodontic syndrome 2 (CTNND1)
• Burn-McKeown syndrome: Oculo oto facial dysplasia (TXNL4A)
• CHARGE syndrome (CHD7, SEMA3E)
• Camptodactyly, tall stature, hearing loss syndrome, CATSHLS (FGFR3)
• Choanal atresia and lymphedema (PTPN14)
• Craniofacial-skeletal-dermatologic dysplasia (FGFR2)
• Craniosynostosis, nonspecific (FGFR2)
• Crouzon syndrome (FGFR2)
• Crouzon syndrome with acanthosis nigricans (FGFR3`)
• Duane-radial ray [Okihiro] syndrome (SALL4)
• IVIC syndrome (SALL4)
• Jackson-Weiss syndrome (FGFR2)
• LADD syndrome (FGFR3)
• Mandibulofacial dysostosis, Guion-Almeida type (EFTUD2)
• Mental retardation, X-linked 99, syndromic, female-restricted (USPE9X)
• Muenke syndrome (FGFR3)
• Pfeiffer syndrome (FGFR2)
• Raine syndrome (FAM20C)
• Saethre-Chotzen syndrome (FGFR2)
• Scaphocephaly, maxillary retrusion, mental retardation (FGFR2)
• Treacher Collins syndrome 1 (TCOF1)
• Treacher Collins syndrome 2 (POLR1D)
• Treacher Collins syndrome 3 (POLR1C)
• Treacher-Collins syndrome 4 (POLR1B)