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Agenesis of permanent teeth

MedGen UID:
224851
Concept ID:
C1290511
Congenital Abnormality
Synonym: Anodontia of permanent dentition
SNOMED CT: Anodontia of permanent dentition (109444001); Anodontia of permanent teeth (109444001)
 
HPO: HP:0006349
OMIM®: 206780

Definition

A congenital defect characterized by the absence of one or more permanent teeth, including oligodontia, hypodontia, and adontia of the of permanent teeth. [from HPO]

Clinical features

From HPO
Anodontia
MedGen UID:
98313
Concept ID:
C0399352
Congenital Abnormality
The absence of all teeth from the normal series by a failure to develop.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAgenesis of permanent teeth
Follow this link to review classifications for Agenesis of permanent teeth in Orphanet.

Conditions with this feature

Dubowitz syndrome
MedGen UID:
59797
Concept ID:
C0175691
Disease or Syndrome
Dubowitz syndrome (DS) is a rare multiple congenital syndrome characterized primarly by growth retardation, microcephaly, distinctive facial dysmorphism, cutaneous eczema, a mild to severe intellectual deficit and genital abnormalities.
Johanson-Blizzard syndrome
MedGen UID:
59798
Concept ID:
C0175692
Disease or Syndrome
Johanson-Blizzard syndrome is an autosomal recessive disorder characterized by poor growth, mental retardation, and variable dysmorphic features, including aplasia or hypoplasia of the nasal alae, abnormal hair patterns or scalp defects, and oligodontia. Other features include hypothyroidism, sensorineural hearing loss, imperforate anus, and pancreatic exocrine insufficiency (summary by Al-Dosari et al., 2008).
Hypoplastic enamel-onycholysis-hypohidrosis syndrome
MedGen UID:
140809
Concept ID:
C0406735
Disease or Syndrome
Some ectodermal dysplasias are here classified as congenital disorders characterized by abnormal development in 2 or more ectodermal structures (hair, nails, teeth, and sweat glands) without other systemic findings. Witkop syndrome is a rare autosomal dominant ectodermal dysplasia involving the teeth and nails. Although a few reported cases have sparse or fine hair, almost all affected individuals have normal hair, sweat glands, and ability to tolerate heat. Affected individuals have a variable number and variable types of congenitally missing permanent and/or primary teeth, which frequently results in lip eversion due to loss of occlusion in the vertical dimension. Nails are generally thin, slow-growing, brittle, and spoon-shaped (koilonychia). Toenails are usually more severely affected than fingernails. The nail defects are alleviated with age and may not be easily detectable during adulthood (summary by Jumlongras et al., 2001).
Odonto-onycho-dermal dysplasia
MedGen UID:
208666
Concept ID:
C0796093
Disease or Syndrome
Odontoonychodermal dysplasia (OODD) is an autosomal recessive disorder characterized by dry hair, severe hypodontia, smooth tongue with marked reduction of fungiform and filiform papillae, onychodysplasia, hyperkeratosis of the palms and soles, hypo- and hyperhidrosis of the skin, and atrophic patches on the face (summary by Adaimy et al., 2007; Yu et al., 2019).
Orofaciodigital syndrome I
MedGen UID:
307142
Concept ID:
C1510460
Disease or Syndrome
Oral-facial-digital syndrome type I (OFD1) is usually male lethal during gestation and predominantly affects females. OFD1 is characterized by the following features: Oral (lobulated tongue, tongue nodules, cleft of the hard or soft palate, accessory gingival frenulae, hypodontia, and other dental abnormalities). Facial (widely spaced eyes or telecanthus, hypoplasia of the alae nasi, median cleft or pseudocleft upper lip, micrognathia). Digital (brachydactyly, syndactyly, clinodactyly of the fifth finger; duplicated hallux [great toe]). Kidney (polycystic kidney disease). Brain (e.g., intracerebral cysts, agenesis of the corpus callosum, cerebellar agenesis with or without Dandy-Walker malformation). Intellectual disability (in ~50% of individuals).
Tooth agenesis, selective, 4
MedGen UID:
372057
Concept ID:
C1835492
Disease or Syndrome
Any tooth agenesis in which the cause of the disease is a mutation in the WNT10A gene.
Cleft palate-stapes fixation-oligodontia syndrome
MedGen UID:
347795
Concept ID:
C1859081
Disease or Syndrome
A rare congenital malformation syndrome characterized by cleft soft palate, severe oligodontia of the deciduous teeth, absence of the permanent dentition, bilateral conductive deafness due to fixation of the footplate of the stapes, short halluces with a wide space between the first and second toes, and fusion of carpal and tarsal bones. There have been no further descriptions in the literature since 1971.
Scalp-ear-nipple syndrome
MedGen UID:
357183
Concept ID:
C1867020
Disease or Syndrome
Scalp-ear-nipple syndrome is characterized by aplasia cutis congenita of the scalp, breast anomalies that range from hypothelia or athelia to amastia, and minor anomalies of the external ears. Less frequent clinical characteristics include nail dystrophy, dental anomalies, cutaneous syndactyly of the digits, and renal malformations. Penetrance appears to be high, although there is substantial variable expressivity within families (Marneros et al., 2013).
Short-rib thoracic dysplasia 7 with or without polydactyly
MedGen UID:
481422
Concept ID:
C3279792
Disease or Syndrome
Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance. Nonskeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life (summary by Huber and Cormier-Daire, 2012 and Schmidts et al., 2013). There is phenotypic overlap with the cranioectodermal dysplasias (Sensenbrenner syndrome; see CED1, 218330). For a discussion of genetic heterogeneity of short-rib thoracic dysplasia, see SRTD1 (208500).
Ectodermal dysplasia 8, hair/tooth/nail type
MedGen UID:
764338
Concept ID:
C3551424
Disease or Syndrome
Some ectodermal dysplasias are here classified as congenital disorders characterized by abnormal development in 2 or more ectodermal structures (hair, nails, teeth, and sweat glands) without other systemic findings. Ectodermal dysplasia-8 is an autosomal recessive disorder characterized by abnormal development of hair, teeth, and nails.
Autosomal dominant Robinow syndrome 3
MedGen UID:
907878
Concept ID:
C4225164
Disease or Syndrome
Autosomal dominant Robinow syndrome (ADRS) is characterized by skeletal findings (short stature, mesomelic limb shortening predominantly of the upper limbs, and brachydactyly), genital abnormalities (in males: micropenis / webbed penis, hypoplastic scrotum, cryptorchidism; in females: hypoplastic clitoris and labia majora), dysmorphic facial features (widely spaced and prominent eyes, frontal bossing, anteverted nares, midface retrusion), dental abnormalities (including malocclusion, crowding, hypodontia, late eruption of permanent teeth), bilobed tongue, and occasional prenatal macrocephaly that persists postnatally. Less common findings include renal anomalies, radial head dislocation, vertebral abnormalities such as hemivertebrae and scoliosis, nail dysplasia, cardiac defects, cleft lip/palate, and (rarely) cognitive delay. When present, cardiac defects are a major cause of morbidity and mortality. A variant of Robinow syndrome, associated with osteosclerosis and caused by a heterozygous pathogenic variant in DVL1, is characterized by normal stature, persistent macrocephaly, increased bone mineral density with skull osteosclerosis, and hearing loss, in addition to the typical features described above.
Tooth agenesis, selective, 7
MedGen UID:
899184
Concept ID:
C4225231
Disease or Syndrome
Any tooth agenesis in which the cause of the disease is a mutation in the LRP6 gene.
Fanconi anemia complementation group R
MedGen UID:
924579
Concept ID:
C4284093
Disease or Syndrome
Fanconi anemia (FA) is characterized by physical abnormalities, bone marrow failure, and increased risk for malignancy. Physical abnormalities, present in approximately 75% of affected individuals, include one or more of the following: short stature, abnormal skin pigmentation, skeletal malformations of the upper and/or lower limbs, microcephaly, and ophthalmic and genitourinary tract anomalies. Progressive bone marrow failure with pancytopenia typically presents in the first decade, often initially with thrombocytopenia or leukopenia. The incidence of acute myeloid leukemia is 13% by age 50 years. Solid tumors – particularly of the head and neck, skin, and genitourinary tract – are more common in individuals with FA.
RAB23-related Carpenter syndrome
MedGen UID:
1644017
Concept ID:
C4551510
Disease or Syndrome
Carpenter syndrome is a rare autosomal recessive disorder with the cardinal features of acrocephaly with variable synostosis of the sagittal, lambdoid, and coronal sutures; peculiar facies; brachydactyly of the hands with syndactyly; preaxial polydactyly and syndactyly of the feet; congenital heart defects; growth retardation; mental retardation; hypogenitalism; and obesity. In addition, cerebral malformations, oral and dental abnormalities, coxa valga, genu valgum, hydronephrosis, precocious puberty, and hearing loss may be observed (summary by Altunhan et al., 2011). Genetic Heterogeneity of Carpenter Syndrome Carpenter syndrome-2 (CRPT2; 614976), in which the features of Carpenter syndrome are sometimes associated with defective lateralization, is caused by mutation in the MEGF8 gene (604267).
Menke-Hennekam syndrome 1
MedGen UID:
1675629
Concept ID:
C5193034
Disease or Syndrome
Menke-Hennekam syndrome-1 (MKHK1) is a congenital disorder characterized by variable impairment of intellectual development and facial dysmorphisms. Feeding difficulties, autistic behavior, recurrent upper airway infections, hearing impairment, short stature, and microcephaly are also frequently seen. Although mutations in the same gene cause Rubinstein-Taybi syndrome-1 (RSTS1; 180849), patients with MKHK1 do not resemble the striking phenotype of RSTS1. Genetic Heterogeneity of Menke-Hennekam Syndrome Menke-Hennekam syndrome-2 (MKHK2; 618333) is caused by heterozygous mutation in exons 30 or 31 of the EP300 gene (602700). Mutation elsewhere in that gene results in RSTS2 (613684).
Menke-Hennekam syndrome 2
MedGen UID:
1676668
Concept ID:
C5193035
Disease or Syndrome
Menke-Hennekam syndrome-2 (MKHK2) is a congenital disorder characterized by variable impairment of intellectual development and facial dysmorphisms. Feeding difficulties, autistic behavior, recurrent upper airway infections, and hearing impairment are also frequently seen. Although mutations in the same gene cause Rubinstein-Taybi syndrome-2 (RSTS2; 613684), patients with MKHK1 do not resemble the striking phenotype of RSTS2. For a discussion of genetic heterogeneity of Menke-Hennekam syndrome, see MKHK1 (618332).
Rothmund-Thomson syndrome type 2
MedGen UID:
1684753
Concept ID:
C5203410
Disease or Syndrome
Rothmund-Thomson syndrome (RTS) is characterized by a rash that progresses to poikiloderma; sparse hair, eyelashes, and/or eyebrows; small size; skeletal and dental abnormalities; juvenile cataracts; and an increased risk for cancer, especially osteosarcoma. A variety of benign and malignant hematologic abnormalities have been reported in affected individuals. The rash of RTS typically develops between ages three and six months (occasionally as late as age two years) as erythema, swelling, and blistering on the face, subsequently spreading to the buttocks and extremities. The rash evolves over months to years into the chronic pattern of reticulated hypo- and hyperpigmentation, telangiectasias, and punctate atrophy (collectively known as poikiloderma) that persist throughout life. Hyperkeratotic lesions occur in approximately one third of individuals. Skeletal abnormalities can include radial ray defects, ulnar defects, absent or hypoplastic patella, and osteopenia.
Osteogenesis imperfecta, type 20
MedGen UID:
1684751
Concept ID:
C5231439
Disease or Syndrome
Osteogenesis imperfecta type XX (OI20) is a progressive deforming bone disorder characterized by osteopenia, skeletal deformity, and both healed and new fractures on radiography. Several patients have died due to respiratory failure (Moosa et al., 2019).
Neurodevelopmental disorder with hypotonia and dysmorphic facies
MedGen UID:
1794184
Concept ID:
C5561974
Disease or Syndrome
Neurodevelopmental disorder with hypotonia and dysmorphic facies (NEDHYDF) is characterized by global developmental delay and hypotonia apparent from birth. Affected individuals have variably impaired intellectual development, often with speech delay and delayed walking. Seizures are generally not observed, although some patients may have single seizures or late-onset epilepsy. Most patients have prominent dysmorphic facial features. Additional features may include congenital cardiac defects (without arrhythmia), nonspecific renal anomalies, joint contractures or joint hyperextensibility, dry skin, and cryptorchidism. There is significant phenotypic variability in both the neurologic and extraneurologic manifestations (summary by Tan et al., 2022).

Professional guidelines

PubMed

Al-Ani AH, Antoun JS, Thomson WM, Merriman TR, Farella M
Biomed Res Int 2017;2017:9378325. Epub 2017 Mar 19 doi: 10.1155/2017/9378325. PMID: 28401166Free PMC Article
William V, Messer LB, Burrow MF
Pediatr Dent 2006 May-Jun;28(3):224-32. PMID: 16805354
Russell KA, Folwarczna MA
J Can Dent Assoc 2003 Jun;69(6):362-6. PMID: 12787472

Recent clinical studies

Etiology

Arai K
Am J Orthod Dentofacial Orthop 2023 Dec;164(6):805-812. Epub 2023 Jul 22 doi: 10.1016/j.ajodo.2023.05.029. PMID: 37486279
Badrov J, Lauc T, Nakaš E, Galić I
Biomed Res Int 2017;2017:8683970. Epub 2017 Feb 26 doi: 10.1155/2017/8683970. PMID: 28331854Free PMC Article
Mayoral-Trias MA, Llopis-Perez J, Puigdollers Pérez A
Eur J Paediatr Dent 2016 Mar;17(1):65-9. PMID: 26949243
Cantekin K, Dane A, Miloglu O, Kazanci F, Bayrakdar S, Celikoglu M
Eur J Paediatr Dent 2012 Mar;13(1):53-6. PMID: 22455529
Polder BJ, Van't Hof MA, Van der Linden FP, Kuijpers-Jagtman AM
Community Dent Oral Epidemiol 2004 Jun;32(3):217-26. doi: 10.1111/j.1600-0528.2004.00158.x. PMID: 15151692

Diagnosis

Santa-Maria FD, Mariath LM, Poziomczyk CS, Maahs MAP, Rosa RFM, Zen PRG, Schüller-Faccini L, Kiszewski AE
Clin Oral Investig 2017 Jun;21(5):1845-1852. Epub 2016 Oct 20 doi: 10.1007/s00784-016-1977-y. PMID: 27766487
Palaska PK, Antonarakis GS
Eur J Oral Sci 2016 Aug;124(4):317-28. Epub 2016 Jun 17 doi: 10.1111/eos.12282. PMID: 27311636
Krøigård AB, Clemmensen O, Gjørup H, Hertz JM, Bygum A
BMC Dermatol 2016 Mar 10;16:3. doi: 10.1186/s12895-016-0040-7. PMID: 26964878Free PMC Article
Robotta P, Schafer E
Quintessence Int 2011 Apr;42(4):331-8. PMID: 21516279
Mattheeuws N, Dermaut L, Martens G
Eur J Orthod 2004 Feb;26(1):99-103. doi: 10.1093/ejo/26.1.99. PMID: 14994889

Prognosis

Comparin LL, Filho RP, Deliberador T, de Souza G, Tatim T, Müller PR, Moreno R
Spec Care Dentist 2022 Sep;42(5):524-530. Epub 2022 Jan 17 doi: 10.1111/scd.12697. PMID: 35037271
Palaska PK, Antonarakis GS
Eur J Oral Sci 2016 Aug;124(4):317-28. Epub 2016 Jun 17 doi: 10.1111/eos.12282. PMID: 27311636
Robotta P, Schafer E
Quintessence Int 2011 Apr;42(4):331-8. PMID: 21516279
Ersin NK, Tugsel Z, Gökce B, Ozpinar B, Eronat N
J Dent Child (Chic) 2003 Sep-Dec;70(3):262-5. PMID: 14998213

Clinical prediction guides

Arai K
Am J Orthod Dentofacial Orthop 2023 Dec;164(6):805-812. Epub 2023 Jul 22 doi: 10.1016/j.ajodo.2023.05.029. PMID: 37486279
Santa-Maria FD, Mariath LM, Poziomczyk CS, Maahs MAP, Rosa RFM, Zen PRG, Schüller-Faccini L, Kiszewski AE
Clin Oral Investig 2017 Jun;21(5):1845-1852. Epub 2016 Oct 20 doi: 10.1007/s00784-016-1977-y. PMID: 27766487
Mayoral-Trias MA, Llopis-Perez J, Puigdollers Pérez A
Eur J Paediatr Dent 2016 Mar;17(1):65-9. PMID: 26949243
Liu W, Wang H, Zhao S, Zhao W, Bai S, Zhao Y, Xu S, Wu C, Huang W, Chen Z, Feng G, He L
J Dent Res 2001 Aug;80(8):1716-20. doi: 10.1177/00220345010800080701. PMID: 11669481
Peck S, Peck L, Kataja M
Am J Orthod Dentofacial Orthop 1996 Oct;110(4):441-3. doi: 10.1016/s0889-5406(96)70048-3. PMID: 8876497

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