Table 3.

Syndromes and medical disorders frequently associated with tooth agenesis.

Syndrome/medical disorder	Responsible gene	Author (year)
Anhidrotic ectodermal dysplasia	EDA	Anbouba et al. (2020) [58]
Cleft lip and palate	TGFB3, MSX 1	Tannure et al. (2012) [59]
Down syndrome	Trisomy 21	Cobourne (2007) [2]
Ehlers Danlos syndrome	ADAMTS2	Colige et al. (1999) [61]
Fraser Syndrome	FRAS1, FREM2, and GRIP1	Kunz et al. (2020) [65]
Hemifacial Microsomia	OTX2, PLCD3, and MYT1	Chen et al. (2018) [64]
Incontentia pigmenti	NEMO	Smahi et al. (2000) [62]
Limb mammary syndrome	TP63	Van Bokhoven et al. (2001) [63]
Popliteal Petrygium Syndrome	Irf6	Wu Chou et al. (2013) [67]
Rieger syndrome (Type 1)	Pitx2	Semina et al. (1996) [60]
Van der Woude syndrome	Irf6	Wang et al. (2003) [68]
Wiktop syndrome	Msx 1	Jumlongras et al. (2001) [66]

KEY: EDA: ectodysplasin A. TGFB3: Transforming growth factor beta 3. MSX1: Msh homeobox 1. ADAM; A disintegrin and metalloproteinase with thrombospondin motifs 2. FRAS 1: Fraser extracellular matrix complex subunit 1. FREM 2: FRAS1 related extracellular matrix 2. GRIP 1: Glutamate receptor interacting protein OTX 2: Orthodenticle homeobox 2. PLCD3; phospholipase C delta 3. MYT1: Myelin transcription factor 1. Nemo: NF-kappa-B essential modulator. TP63: Tumour protein 63. IRF6: Interferon regulatory factor 6. PITX2: Paired like homeodomain 2.