Klinische FragestellungHörverlust bei (Ohr-)Fehlbildungen, Differentialdiagnose

NGS +

• Alias: Deafness, hearing impairment
• Alias: Ear malformations with hearing impairment
• Alias: Microtia
• Alias: Schwerhörigkeit, Taubheit
• Allelic: Achondroplasia (FGFR3)
• Allelic: Anemia, sideroblastic, 4 (HSPA9)
• Allelic: Anterior segment anomalies with/-out cataract (EYA1)
• Allelic: Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis (FGFR2)
• Allelic: Apert syndrome (FGFR2)
• Allelic: Aplasia of lacrimal and salivary glands (FGF10)
• 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: Cryptophthalmos, unilateral or bilateral, isolated (FREM2)
• Allelic: Duane-radial ray syndrome (SALL4)
• Allelic: Gastric cancer, somatic (FGFR2)
• Allelic: Hypochondroplasia (FGFR3)
• Allelic: Hypogonadotropic hypogonadism 5 with/-out anosmia (CHD7)
• Allelic: Jackson-Weiss syndrome (FGFR2)
• Allelic: Leber congenital amaurosis 17 (GDF6)
• Allelic: Leukodystrophy, hypomyelinating, 11 (POLR1C)
• Allelic: Microphthalmia with coloboma 6, digenic (GDF6)
• Allelic: Microphthalmia, isolated 4 (GDF6)
• Allelic: Migraine, resistance to (EDNRA)
• Allelic: Muenke syndrome (FGFR3)
• Allelic: Multiple synostoses syndrome 4 (GDF6)
• Allelic: Nevus, epidermal, somatic (FGFR3)
• Allelic: PCWH syndrome (SOX10)
• Allelic: Pfeiffer syndrome (FGFR2)
• Allelic: Retinal dystrophy, early-onset, with/-out pituitary dysfunction (OTX2)
• Allelic: Retinitis pigmentosa 23 (OFD1)
• 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 + II (FGFR3)
• Acrofacial dysostosis 1, Nager type (SF3B4)
• Acrofacial dysostosis, Cincinnati type (POLR1A)
• Auriculocondylar syndrome 1 (GNAI3)
• Auriculocondylar syndrome 2 (PLCB4)
• Bilateral microtia, congenital aural atresia [panelapp] (FOXI3)
• Branchiooculofacial syndrome (TFAP2A)
• Branchiootic syndrome 1 (EYA1)
• Branchiootic syndrome 3 (SIX1)
• Branchiootorenal syndrome 1, with/-out cataracts (EYA1)
• Branchiootorenal syndrome 2 (SIX5)
• CHARGE syndrome (CHD7)
• Craniofacial microsomia 2 (FOXI3)
• Deafness, AD 23 (SIX1)
• Deafness, AR 4, with enlarged vestibular aqueduct (SLC26A4)
• Deafness, congenital with inner ear agenesis, microtia + microdontia (FGF3)
• Diamond Blackfan anemia 15 with mandibulofacial dysostosis (RPS28)
• Ear malformations with hearing impairment (CDT1)
• Even-plus syndrome (HSPA9)
• Fraser syndrome 1 (FRAS1)
• Fraser syndrome 2 (FREM2)
• Fraser syndrome 3 (GRIP1)
• IVIC syndrome (SALL4)
• Joubert syndrome 10 (OFD1)
• Kabuki syndrome 1 (KMT2D)
• Kabuki syndrome 2 (KDM6A)
• Klippel-Feil syndrome 1, AD (GDF6)
• LADD syndrome (FGF10, FGFR2, FGFR3)
• Mandibulofacial dysostosis with alopecia (EDNRA)
• Mandibulofacial dysostosis, Guion-Almeida type (EFTUD2)
• Meier-Gorlin syndrome 1 (ORC1)
• Meier-Gorlin syndrome 2 (ORC4)
• Meier-Gorlin syndrome 3 (ORC6)
• Meier-Gorlin syndrome 5 (CDC6)
• Microphthalmia, syndromic 5 (OTX2)
• Microphthalmia, syndromic 6 (BMP4)
• Microtia with/-out hearing impairment, AD (HOXA2)
• Microtia, hearing impairment + cleft palate, AR (HOXA2)
• Miller syndrome (DHODH)
• Oculoauricular syndrome (HMX1)
• Orofacial cleft 11 (BMP4)
• Orofaciodigital syndrome I (OFD1)
• Otofaciocervical syndrome (EYA1)
• Pendred syndrome (SLC27A4)
• Pituitary hormone deficiency, combined, 6 (OTX2)
• Robin sequence with cleft mandible + limb anomalies (EIF4A3)
• Short stature, auditory canal atresia, mandibular hypoplasia, skeletal abnormalities (GSC)
• Simpson-Golabi-Behmel syndrome, type 2 (OFD1)
• Townes-Brocks branchiootorenal-like syndrome (SALL1)
• Townes-Brocks syndrome 1 (SALL1)
• Treacher Collins syndrome 1 (TCOF1)
• Treacher Collins syndrome 2 (POLR1D)
• Treacher Collins syndrome 3 (POLR1C)
• Waardenburg syndrome, type 2E, with/-out neurologic involvement (SOX10)
• Waardenburg syndrome, type 4C (SOX10)