IllnessOligodontia/anodontia, differential diagnosis

NGS +

[Sanger]

Congenital absence of permanent teeth is the most common congenital malformation in humans. Missing tooth Anlagen become evident during the interdentition phase and vary from single missing teeth (dental aplasia) to complete anodontia. The absence of <6 permanent teeth is termed hypodontia, and that of ≥6 or more missing permanent teeth is termed oligodontia. Missing tooth Anlagen can occur in isolation non-syndromically or in the context of numerous syndromic conditions, most commonly ectodermal dysplasia. Most often, the mode of inheritance in oligodontia and anodontia is autosomal dominant, less commonly autosomal recessive or X-linked. The diagnostic yield using molecular genetics is largely unknown.

(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)