ErkrankungOligodontie, Anodontie; Differentialdiagnose

NGS +

[Sanger]

Das angeborene Fehlen von bleibenden Zähnen ist die häufigste angeborene Fehlbildung des Menschen. Fehlende Zahnanlagen werden in der Wechselgebissphase evident und variieren von einzelnen fehlenden Zähnen (Zahnaplasie) bis zur kompletten Anodontie. Das Fehlen von <6 bleibenden Zähnen wird als Hypodontie, das von ≥6 und mehr fehlenden bleibenden Zähnen als Oligodontie bezeichnet. Fehlende Zahnanlagen können isoliert nicht-syndromal oder im Rahmen von zahlreichen syndromalen Erkrankungen auftreten, am häufigsten bei ektodermaler Dysplasie. Meistenteils ist der Erbgang bei Oligodontie und Anodontie autosomal dominant, seltener autosomal rezessiv oder X-gebunden. Die diagnostische Ausbeute mittels Molekulargenetik ist weitgehend unbekannt.

(Referenz: https://reader.elsevier.com/reader/sd/pii/B9780128012383641132?token=45F55D6796DC313F6FD16818E5C9FD778BE8972634E58BE87699C98E2521648AE1032A1B2453DF6381F306293C8DD56E

• Alias: Failure of tooth eruption
• Allelic: Anterior segment dysgenesis 4 (PITX2)
• Allelic: Arrhythmogenic right ventricular dysplasia 8 (DSP)
• Allelic: Cardiomyopathy, dilated, with woolly hair and keratoderma (DSP)
• Allelic: Chondrodysplasia, Blomstrand type (PTH1R)
• Allelic: Colorectal cancer, somatic (AXIN2)
• Allelic: Corneal dystrophy, posterior polymorphous, 4 (GRHL2)
• Allelic: Coronary artery disease, AD, 2 (LRP6)
• Allelic: Deafness, AD 28 (GRHL2)
• Allelic: Deafness, AR 98 (TSPEAR)
• Allelic: Ectodermal dysplasia 1, hypohidrotic, XL (EDA)
• Allelic: Ectodermal dysplasia 3, Witkop type (MSX1)
• Allelic: Eiken syndrome (PTH1R)
• Allelic: Encephalocraniocutaneous lipomatosis, somatic mosaic (FGFR1)
• Allelic: Epidermolysis bullosa, lethal acantholytic (DSP)
• Allelic: Epithelial recurrent erosion dystrophy (COL17A1)
• Allelic: Hair morphology 1, hair thickness (EDAR)
• Allelic: Hartsfield syndrome (FGFR1)
• Allelic: Hemangioma, capillary infantile, susceptibility to (ANTXR1)
• Allelic: Hypogonadotropic hypogonadism 2 with/-out anosmia (FGFR1)
• Allelic: Jackson-Weiss syndrome (FGFR1)
• Allelic: Keratosis palmoplantaris striata II (DSP)
• Allelic: Metaphyseal chondrodysplasia, Murk Jansen type (PTH1R)
• Allelic: Orofacial cleft 5 (MSX1)
• Allelic: Orofacial cleft 6 (IRF6)
• Allelic: Osteoglophonic dysplasia (FGFR1)
• Allelic: Pfeiffer syndrome (FGFR1)
• Allelic: Popliteal pterygium syndrome 1 (IRF6)
• Allelic: Retinitis pigmentosa 23 I (OFD1)
• Allelic: Ring dermoid of cornea (PITX2)
• Allelic: Skin fragility-woolly hair syndrome (DSP)
• Allelic: Split-hand/foot malformation 6 (WNT10B)
• Allelic: Trigonocephaly 1 (FGFR1)
• ADULT [Acro-Dermato-Ungual-Lacrimal-Tooth] syndrome (TP63)
• Aplasia of lacrimal + salivary glands (FGF10)
• Axenfeld-Rieger syndrome, type 1 (PITX2)
• Craniofacial-skeletal-dermatologic dysplasia (FGFR2)
• Dental anomalies + short stature (LTBP3)
• Dilated cardiomyopathy with woolly hair, keratoderma + tooth agenesis (DSP)
• Ectodermal dysplasia 10A + 10B, hypohidrotic/hair/nail type, AD + AR (EDAR)
• Ectodermal dysplasia 11A + 11B, hypohidrotic/hair/tooth type, AD + AR (EDARADD)
• Ectodermal dysplasia 13, hair/tooth type (KREMEN1)
• Ectodermal dysplasia 14, hair/tooth type with/-out hypohidrosis (TSPEAR)
• Ectodermal dysplasia/short stature syndrome (GRHL2)
• Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 (TP63)
• Ellis-van Creveld syndrome (EVC, EVC2)
• Epidermolysis bullosa, junctional, localisata variant (COL17A1)
• Epidermolysis bullosa, junctional, non-Herlitz type (COL17A1)
• Failure of tooth eruption, primary (PTH1R)
• GAPO [Growth retard., Alopecia, Pseudoanodontia, progressive Optic atrophy] syndrome (ANTXR1)
• Geleophysic dysplasia 3 (LTBP3)
• Hay-Wells syndrome (TP63)
• Joubert syndrome 10 I (OFD1)
• LADD [LacrimoAuriculoDentoDigital] syndrome (FGFR3, FGFR3, FGF10)
• Odontoonychodermal dysplasia (WNT10A)
• Oligodontia-colorectal cancer syndrome (AXIN2)
• Orofacial cleft 10 (SUMO1)
• Orofaciodigital syndrome I (OFD1)
• Scaphocephaly + Axenfeld-Rieger anomaly (FGFR2)
• Scaphocephaly, maxillary retrusion + mental retardation (FGFR2)
• Schopf-Schulz-Passarge syndrome (WNT10A)
• Simpson-Golabi-Behmel syndrome, type 2 (OFD1)
• Tooth agenesis, selective, 1, with/-out orofacial cleft (MSX1)
• Tooth agenesis, selective, 3 (PAX9)
• Tooth agenesis, selective, 4 (WNT10A)
• Tooth agenesis, selective, 7 (LRP6)
• Tooth agenesis, selective, 8 (WNT10B)
• Tooth agenesis, selective, 9 (GREM2)
• Tooth agenesis, selective, XL 1 (EDA)
• Van der Woude syndrome (IRF6)
• Van der Woude syndrome 2 (GRHL3)
• Weyers acrofacial dysostosis (EVC, EVC2)
• Woodhouse-Sakati syndrome (DCAF17)