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Nonsyndromic Tooth Agenesis Overview

, DDS, MS, PhD, , DDS, PhD, , MS, MA, CGC, , BS, and , BS.

Author Information and Affiliations

Initial Posting: .

Estimated reading time: 25 minutes


The purpose of this overview is to increase the awareness of clinicians regarding the genetic causes of nonsyndromic tooth agenesis (NSTA), inform genetic counseling of at-risk family members, and review management options.

The following are the goals of this overview.

Goal 1.

Describe the clinical characteristics of nonsyndromic tooth agenesis (NSTA).

Goal 2.

Review the genetic causes of NSTA.

Goal 3.

Provide an evaluation strategy to identify the genetic cause of NSTA in a proband (when possible).

Goal 4.

Inform genetic counseling of family members of an individual with NSTA.

Goal 5.

Review management of NSTA following diagnosis: evaluations, treatment, and surveillance.

1. Clinical Characteristics of Nonsyndromic Tooth Agenesis

Tooth agenesis is a developmental anomaly characterized by the absence of one or more permanent teeth (excluding third molars) due to failure at the early stages of tooth development. The term nonsyndromic tooth agenesis (NSTA) refers to the condition in which tooth agenesis of permanent teeth is the only clinical finding.

Nomenclature. Tooth agenesis is also commonly referred to as:

  • Congenitally missing teeth. This term is not entirely adequate since development of permanent teeth continues after birth and diagnosis of tooth agenesis is only possible at around age six years.
  • Hypodontia. Agenesis of five or fewer teeth (excluding third molars)
  • Oligodontia. Six or more teeth are missing (excluding third molars)
  • Anodontia. All permanent teeth are missing; this is found almost exclusively in syndromic cases (see Table 2) [Hennekam et al 2010].

Diagnosis requires thorough clinical and radiographic examination to exclude impacted teeth and missing teeth due to caries or dental trauma.

  • Missing teeth in the primary dentition is rare, however, a missing deciduous tooth is usually an indicator of NSTA of the respective permanent tooth.
  • The presence of unusual spacing in a child's dentition should lead the pediatrician and the dentist to suspect NSTA. Diagnosis of NSTA can be confirmed by panoramic radiograph after age six years, when all of the permanent tooth buds (excluding third molars) should be visible in the radiograph.
  • In adults, consultation of dental records at younger ages in addition to careful evaluation of edentulous spaces are advisable to evaluate for missing teeth due to extractions or as a consequence of periodontal disease [Hennekam et al 2010].
  • In general, tooth agenesis tends to manifest unilaterally, and affects the maxilla and mandible at similar rates. The most commonly missing teeth (excluding third molars) are permanent mandibular second premolars, followed by maxillary lateral incisors, and maxillary second premolars.
  • Bilateral agenesis of maxillary lateral incisors is also more common than unilateral.
  • A thorough medical history and physical examination to assess for syndromic features that lead to NSTA and/or premature loss of teeth is also required (see Table 2) [Hennekam et al 2010].

Note: NSTA is a common feature in individuals with nonsyndromic cleft lip with/without cleft palate. Careful examination and evaluation of medical history should help determine the nonsyndromic nature of both findings.

Prevalence. The prevalence of NSTA has been reported to vary between 1.6% and 36.5% depending on what population is being studied and whether third molars are included in the missing teeth count [Polder et al 2004].

  • In most studies, the prevalence of NSTA ranges from 3% to 10% in the mild form (hypodontia) whereas the more severe forms (oligodontia) show a prevalence of 0.1%-0.5%, excluding third molars.
  • Tooth agenesis may have variable prevalence according to the population studied, with Asians being more commonly affected, followed by individuals of northern European background and African Americans.
    • A meta-analysis investigating the prevalence of NSTA, which included 33 studies from different populations worldwide, showed that the prevalence of NSTA in Europe was 5.5% higher and in Australia was 6.3% higher compared to the prevalence in North America, which was 1% [Al-Ani et al 2017].
    • The prevalence in the Japanese population was reported to be 8.5% [Endo et al 2006].
  • The most frequently missing tooth types also vary by population; agenesis of lower incisors is more frequent in Asians than in other populations [Polder et al 2004].
  • Females are more frequently affected than males with a 3:2 ratio [Polder et al 2004].

2. Causes of Nonsyndromic Tooth Agenesis

The etiology of nonsyndromic tooth agenesis (NSTA) is attributed to mutation of genes involved in craniofacial and tooth development in about 80% of affected individuals. In the remaining 20%, NSTA is attributed to exogenous factors (e.g., chemotherapy, radiation therapy, maternal rubella virus infection, and exposure to medications such as thalidomide and antineoplastic agents) early in life while permanent tooth buds are developing [Hennekam et al 2010].

Numerous genes and genetic variants have been implicated in the etiology of NSTA, most of which were suggested from syndromic forms or animal models (Table 1). Syndromic forms of tooth agenesis are commonly found in oral-facial cleft syndromes and ectodermal dysplasia syndromes [Phan et al 2016] (Table 2).

Traditionally, NSTA was considered a monogenic condition. Recently, several studies have suggested multilocus or oligogenic inheritance [Dinckan et al 2018b, Du et al 2018].

For many single genes associated with tooth agenesis, inter- and intrafamilial variability and reduced penetrance are common [Williams & Letra 2018]. Table 1 lists single genes in which at least two families have been identified to have NSTA after careful phenotyping. Some of these genes are associated with syndromic tooth agenesis (see Table 2) as well. It is likely that the genes that lead to apparent NSTA, but for which there is an allelic syndromic condition, are part of a spectrum with apparent NSTA at one end and syndromic features at the other end. However, it is important to realize that an individual with apparent NSTA can have a pathogenic variant in a gene that more traditionally has been associated with syndromic TA. Careful phenotyping for syndromic features after the identification of a pathogenic variant in one of these genes is recommended (see Management).

Table 1.

Nonsyndromic Tooth Agenesis: Genes and Associated Dental Phenotypes

GeneMOIDental PhenotypeSelected Allelic Syndromic Disorder(s) 1


AD+Oligodontia-colorectal cancer syndrome (OMIM 608615)
EDA XL++ (mandibular incisors, maxillary lateral incisors) Hypohidrotic ectodermal dysplasia
EDAR AD 3++ (mandibular second premolars)
FGFR1 AD+ (incisor & premolar agenesis)Kallmann syndrome (See Isolated Gonadotropin-Releasing Hormone Deficiency.)


IRF6 AD+ (incisor & premolar agenesis)Van der Woude & popliteal pterygium syndromes (See IRF6-Related Disorders.)

LRP6 5

AD+ (incisor & premolar agenesis)AD coronary artery disease (OMIM 610947)

MSX1 6

(AD) 7++ (agenesis of permanent molars)Witkop syndrome, Wolf-Hirschhorn syndrome, Pierre Robin syndrome

PAX9 8

AD++ (agenesis of permanent 2nd molars followed by 2nd premolars)Smaller tooth dimensions; agenesis of anterior teeth rarely reported

WNT10A 9, 10

(AD) 11
++ (no particular preferential tooth type missing)TaurodontismOdonto-onycho-dermal dysplasia, Schöpf-Schulz-Passarge syndrome, hypohydrotic ectodermal dysplasia

WNT10B 12

AD++ (lateral incisor agenesis)

See Table 2.


Zeng et al [2017], Mumtaz et al [2020]; note that some forms of hypohidrotic ectodermal dysplasia are due to biallelic pathogenic variants in EDAR and are inherited in an autosomal recessive manner (see Table 2).


Complex inheritance, mostly autosomal dominant


The most common WNT10A pathogenic variant found in individuals with nonsyndromic tooth agenesis is c.682T>A (p.Phe228Ile), which is estimated to be present in about 3.43% of the general population [Vink et al 2014]. However, incomplete penetrance of the phenotype has been reported in heterozygotes with this variant [Yang et al 2015].


Complex inheritance has also been proposed (see Genetic Risk Assessment).


Table 2.

Disorders to Consider in the Differential Diagnosis of Apparent Nonsyndromic Tooth Agenesis

GeneDisorderMOIDental PhenotypeOther Features
Selected allelic disorders (i.e., disorders assoc w/genes also known to be involved in nonsyndromic tooth agenesis)
AXIN2 Oligodontia-colorectal cancer syndrome 1 (OMIM 608615)ADOligodontia (agenesis of molars, lower incisors & upper lateral incisors), odontomasOsteomas, colorectal cancer
Hypohidrotic ectodermal dysplasia 3XL
Oligodontia, hypodontia, microdontia, anodontia, taurodontism, tooth malformationHypotrichosis, anhidrosis, hypohidrosis, possible mammary agenesis, frontal bossing, periorbital wrinkling & hyperpigmentation, depressed nasal bridge, prominent lips
FGFR1 Kallmann syndrome 4 (See Isolated Gonadotropin-Releasing Hormone Deficiency.)ADOligodontia, hypodontiaCleft lip/palate, anosmia, hypogonadism
IRF6 Van der Woude & popliteal pterygium syndromes (PPS) 5 (See IRF6-Related Disorders.)ADHypodontiaIn PPS, webbed skin of the legs, genital malformations, lip pits, orofacial clefts
MSX1 6Wiktop syndrome 7 (Witkop type ectodermal dysplasia 3) (OMIM 189500)ADOligodontia (2nd premolars & molars more affected), hypodontiaNail dysgenesis, orofacial clefts
WNT10A Odonto-onycho-dermal dysplasia 8 (OMIM 257980)AROligodontia, hypodontia, microdontiaSmooth tongue w/marked ↓ of fungiform & filiform papillae, keratoderma & hyperhidrosis of palms & soles, hyperkeratosis of the skin, onychodysplasia
Schöpf-Schulz-Passarge syndrome 9 (OMIM 224750)AROligodontia, hypodontia, microdontiaEyelid cysts, sparse & dry hair, dystrophic nails, dry skin, hyperkeratotic hand papules
Hypohidrotic ectodermal dysplasia 3AD
Oligodontia, hypodontia, microdontia, anodontia, taurodontism, tooth malformationHypotrichosis, anhidrosis, hypohidrosis, possible mammary agenesis, frontal bossing, periorbital wrinkling & hyperpigmentation, depressed nasal bridge, prominent lips
Genes that preliminary research data suggest may also be assoc w/isolated nonsyndromic tooth agenesis (but insufficient data to state this definitively)
ANTXR1 Optic atrophy syndrome 10 (GAPO) (OMIM 230740)AROligodontia, hypodontia, failure of tooth eruption (pseudoanodontia)Delayed growth, alopecia, optic atrophy
COL17A1 11Junctional epidermolysis bullosa 12AROligodontia (no preferential tooth type missing), hypodontiaExtensive blistering, nail dystrophy, atrophic alopecia, amelogenesis imperfecta, dental caries
Genes assoc w/syndromic disorders involving ectodermal findings (Note: Listed disorders are limited to those w/o characteristic dysmorphic features &/or cognitive impairment.)
Weyers acrofacial dysostosis 13 (OMIM 193530)ADHypodontia, malocclusion, conical teeth, supernumerary teethMild short stature, postaxial polydactyly, dystrophic nails
FGF10 Lacrimoauriculodentodigital (LADD) syndrome 14 (OMIM 149730)ADHypodontia (maxillary incisors), microdontia, delayed eruption, enamel dysplasia, cariesDigital anomalies, hearing loss, lacrimal & salivary gland hypoplasia & aplasia, auricular anomalies
FGFR2 ADHypodontia, microdontia, agenesis of maxillary incisors, delayed eruption, enamel dysplasiaLacrimal duct aplasia, deafness, digital anomalies
GRHL2 Ectodermal dysplasia / short stature syndrome 16 (OMIM 616029)ARHypodontia, enamel hypoplasia, developmental delay of dentitionShort stature, nail dystrophy &/or loss, focal hyperkeratosis of hands & feet, hyperpigmentation of oral mucosa &/or tongue
KREMEN1 Ectodermal dysplasia, hair/tooth type 17 (OMIM 617392)AROligodontia, hypodontiaThin sparse hair, eyelashes & eyebrows, protruding lips, depressed nasal bridge, broad nose w/hypertelorism, down slanting palpebral fissures
LTBP3 18Dental anomalies & short stature (OMIM 60121619AROligodontia (no preferential tooth type missing), hypodontiaShort stature, mitral valve prolapse
OFD1 Oral-facial-digital syndrome type I 20XLHypodontia (lateral incisors), canine malpositionMicrognathia, lobulated tongue, tongue nodules, cleft lip/palate, accessory gingival frenula, hypoplastic alae nasi, syndactyly, polycystic kidney disease
PITX2 Axenfeld-Rieger syndrome, type 1 21 (OMIM 180500)ADOligodontia (upper lateral incisors & upper 2nd premolars), hypodontia, microdontia, enamel hypoplasiaEye anomalies, glaucoma, maxillary hypoplasia, umbilical anomalies
PVRL1 Cleft lip/palate-ectodermal dysplasia 22 (OMIM 225060)ARHypodontia, microdontiaCleft lip & palate, sparse scalp hair, syndactyly
TP63 Ectrodactyly, ectodermal dysplasia, cleft lip/palate syndrome 3; orofacial cleft 8; Rapp-Hodgkin syndrome 23 (See TP63-Related Disorders.)ADHypodontia, microdontia, extensive dental caries, enamel hypoplasia, prominent marginal ridges of permanent maxillary incisors, round-shaped permanent molars, barrel-shaped permanent maxillary central incisorsCleft lip & palate, sparse/brittle/dry hair (trichodysplasia), ectodermal dysplasia, minor limb anomalies, tear duct anomalies, ankyloblepharon, nail abnormalities, T-cell lymphopenia
TSPEAR Ectodermal dysplasia 24 (OMIM 618180)ARHypodontia, microdontiaScalp hypotrichosis; skin, hair, & limb defects

Emerging evidence exists that mutation in this gene could cause isolated nonsyndromic tooth agenesis, but data are insufficient to state this definitively.


Larger deletions of the chromosome 4p16.2 region that include MSX1 and surrounding genes may lead to Wolf-Hirschhorn syndrome, depending on the deletion size and gene content. Individuals with Wolf-Hirschhorn syndrome can have hypodontia in addition to syndromic features including seizures, intellectual disability, muscular hypotonia, congenital heart defects, and cryptorchidism [Ozcan et al 2017].


Mutation of this gene also leads to dystrophic epidermolysis bullosa (AD and AR) and epithelial recurrent erosion dystrophy (OMIM 122400; AD) but tooth agenesis is not a reported feature of these other phenotypes.


Mutation of this gene also leads to geleophysic dysplasia (AD) but tooth agenesis is not a reported feature of this phenotype.


3. Evaluation Strategies to Identify the Genetic Cause of Nonsyndromic Tooth Agenesis in a Proband

Establishing a specific genetic cause of NSTA:

  • Can aid in discussions of prognosis (which are beyond the scope of this GeneReview) and genetic counseling;
  • Usually involves a medical and dental history, physical examination, intra- and extraoral radiographs, family history, and genomic/genetic testing.

Physical Examination

A thorough physical exam should be completed to assess the presence of any extraoral features that may indicate a syndromic presentation.

A detailed oral exam and review of current and previous intra- and extraoral radiographs should then follow to identify exactly how many and which permanent teeth are absent and identify the presence of other dental anomalies in individuals with tooth agenesis.

Microdontia (which includes peg laterals), malocclusion, and retention of primary teeth are common findings in affected individuals.

Family History

A three-generation family history should be taken (when possible), with attention to relatives with manifestations of tooth agenesis and other dental anomalies, such as enamel defects or differences in tooth shape. Direct examination by a dental professional with specific expertise in tooth agenesis may need to be completed on all pertinent relatives due to the difficulty in diagnosing tooth agenesis vs other causes of tooth loss in adults. Review and documentation of medical and dental records and results of molecular genetic testing is recommended, when available.

Genomic/Genetic Testing

Molecular genetic testing approaches can include a combination of gene-targeted testing (single-gene testing or multigene panel) and comprehensive genomic testing (exome sequencing or genome sequencing). Gene-targeted testing requires the clinician to hypothesize which gene(s) are likely involved, whereas genomic testing does not.

Serial single-gene testing can be considered if clinical findings and/or family history indicate that pathogenic variants in a particular gene are most likely (see Table 1) [van den Boogaard et al 2012, Williams & Letra 2018, Yu et al 2019].

  • In individuals with posterior tooth agenesis, molecular genetic testing of MSX1 and/or PAX9 may be considered first.
  • In individuals with hypodontia and oligodontia affecting both anterior and posterior dentition alike, molecular genetic testing of AXIN2, IRF6, and/or WNT10A may be considered first.
  • In individuals with microdontia (peg laterals) or abnormally shaped teeth in addition to missing teeth, molecular genetic testing of WNT10A and/or EDA may be considered first.

A multigene panel that includes some or all of the genes listed in Tables 1 and 2 is most likely to identify the genetic cause of the tooth agenesis while limiting identification of variants of uncertain significance and pathogenic variants in genes that currently do not explain the underlying phenotype. Note: (1) The genes included in the panel and the diagnostic sensitivity of the testing used for each gene vary by laboratory and are likely to change over time. (2) Some multigene panels may include genes not associated with the condition discussed in this GeneReview. Of note, given the rarity of some of the genes associated with tooth agenesis, some panels may not include all the genes mentioned in this overview. (3) In some laboratories, panel options may include a custom laboratory-designed panel and/or custom phenotype-focused exome analysis that includes genes specified by the clinician. (4) Methods used in a panel may include sequence analysis, deletion/duplication analysis, and/or other non-sequencing-based tests.

For an introduction to multigene panels click here. More detailed information for clinicians ordering genetic tests can be found here.

Comprehensive genomic testing, which does not require the clinician to determine which gene(s) are likely involved, may be considered. Exome sequencing is most commonly used; genome sequencing is also possible.

For an introduction to comprehensive genomic testing click here. More detailed information for clinicians ordering genomic testing can be found here.

4. Genetic Risk Assessment

Genetic counseling is the process of providing individuals and families with information on the nature, mode(s) of inheritance, and implications of genetic disorders to help them make informed medical and personal decisions. The following section deals with genetic risk assessment and the use of family history and genetic testing to clarify genetic status for family members; it is not meant to address all personal, cultural, or ethical issues that may arise or to substitute for consultation with a genetics professional. —ED.

Mode of Inheritance

Nonsyndromic tooth agenesis (NSTA) caused by pathogenic variants in AXIN2, EDAR, FGFR1, GREM2, IRF6, LRP6, MSX1, PAX9, or WNT10B is inherited in an autosomal dominant manner.

NSTA caused by pathogenic variants in EDA is inherited in an X-linked manner.

NSTA caused by pathogenic variants in WNT10A is inherited in an autosomal dominant or autosomal recessive manner; however, both decreased penetrance and variable expressivity (even within individuals from the same family) has been reported for some variants [Yang et al 2015]. Complex inheritance has also been proposed (see Complex/Multifactorial Inheritance).

Note: This section provides genetic risk assessment information for individuals and families with a molecular diagnosis of NSTA (see Table 1). If an individual has tooth agenesis as part of known syndromic disorder (see Table 2), counseling for that disorder is indicated; for more information, see Klein et al [2013], Williams & Letra [2018], and Yu et al [2019].

Autosomal Dominant Inheritance – Risk to Family Members

Parents of a proband

  • Many individuals with a molecular diagnosis of autosomal dominant NSTA have an affected parent [Williams & Letra 2018, Yu et al 2019].
  • Some individuals diagnosed with autosomal dominant NSTA have the disorder as the result of a de novo pathogenic variant. The proportion of individuals with NSTA caused by a de novo pathogenic variant is unknown.
  • If a molecular diagnosis has been established in the proband and the proband appears to be the only affected family member (i.e., a simplex case), molecular genetic testing is recommended for the parents of the proband to confirm their genetic status and to allow reliable recurrence risk counseling.
  • If the pathogenic variant identified in the proband is not identified in either parent, the following possibilities should be considered:
    • The proband has a de novo pathogenic variant. Note: A pathogenic variant is reported as "de novo" if: (1) the pathogenic variant found in the proband is not detected in parental DNA; and (2) parental identity testing has confirmed biological maternity and paternity. If parental identity testing is not performed, the variant is reported as "assumed de novo" [Richards et al 2015].
    • The proband inherited a pathogenic variant from a parent with germline (or somatic and germline) mosaicism. Though theoretically possible, no instances of germline mosaicism have been reported. Note: Testing of parental leukocyte DNA may not detect all instances of somatic mosaicism and will not detect a pathogenic variant that is present in the germ cells only.
  • The family history of some individuals diagnosed with NSTA may appear to be negative because of failure to recognize the disorder in affected family members, reduced penetrance, and variable expressivity. Therefore, an apparently negative family history cannot be confirmed without appropriate clinical evaluation of the parents and/or molecular genetic testing (to establish that neither parent is heterozygous for the pathogenic variant identified in the proband).

Sibs of a proband. The risk to the sibs of the proband depends on the clinical/genetic status of the proband's parents:

Offspring of a proband. Each child of an individual with autosomal dominant NSTA has a 50% chance of inheriting the pathogenic variant.

Other family members. The risk to other family members depends on the status of the proband's parents: if a parent has the pathogenic variant, the parent's family members may be at risk.

Autosomal Recessive Inheritance – Risk to Family Members

Parents of a proband

Sibs of a proband

  • If both parents are known to be heterozygous for a WNT10A pathogenic variant, each sib of an affected individual has at conception a 25% chance of inheriting biallelic WNT10A pathogenic variants, a 50% chance of inheriting one pathogenic variant, and a 25% chance of inheriting neither of the familial WNT10A pathogenic variants.
  • While clinical manifestations of tooth agenesis vary among affected family members, sibs who inherit biallelic WNT10A pathogenic variants will often have oligodontia.
  • Sibs who inherit one WNT10A pathogenic variant (heterozygotes) may be asymptomatic or have hypodontia.

Offspring of a proband. The offspring of an individual with biallelic WNT10A pathogenic variants are obligate heterozygotes for a pathogenic variant in WNT10A and may appear to be asymptomatic or have hypodontia.

Other family members. Each sib of the proband's parents is at a 50% risk of being heterozygous for a WNT10A pathogenic variant.

Carrier (heterozygote) detection. Heterozygote testing for at-risk relatives requires prior identification of the WNT10A pathogenic variants in the family.

X-Linked Inheritance – Risk to Family Members

Parents of a male proband

  • The father of an affected male will not have EDA-related NSTA nor will he be hemizygous for the EDA pathogenic variant; therefore, he does not require further evaluation/testing.
  • In a family with more than one affected individual, the mother of an affected male is an obligate heterozygote (carrier). Note: If a woman has more than one affected child and no other affected relatives and if the EDA pathogenic variant cannot be detected in her leukocyte DNA, she most likely has germline mosaicism.
  • If a male is the only affected family member (i.e., a simplex case), the mother may be a heterozygote (carrier), the affected male may have a de novo EDA pathogenic variant (in which case the mother is not a carrier), or the mother may have somatic/germline mosaicism. The frequency of de novo EDA pathogenic variants is unknown.
  • Molecular genetic testing of the mother is recommended to confirm her genetic status and to allow reliable recurrence risk assessment.

Sibs of a male proband. The risk to sibs depends on the genetic status of the mother:

  • If the mother of the proband has an EDA pathogenic variant, the chance of transmitting it in each pregnancy is 50%.
  • If the proband represents a simplex case and if the EDA pathogenic variant cannot be detected in the leukocyte DNA of the mother, the risk to sibs is presumed to be low but greater than that of the general population because of the possibility of maternal germline mosaicism.

Offspring of a male proband. Affected males transmit the EDA pathogenic variant to all of their daughters and none of their sons.

Other family members. The maternal aunts and maternal cousins of a male proband may be at risk of having an EDA pathogenic variant.

Note: Molecular genetic testing may be able to identify the family member in whom a de novo pathogenic variant arose, information that could help determine genetic risk status of the extended family.

Heterozygote detection. Identification of female heterozygotes requires prior identification of the EDA pathogenic variant in an affected family member.

Complex/Multifactorial Inheritance

Oligogenic inheritance due to multilocus variation has recently been proposed for nonsyndromic tooth agenesis. For example, pathogenic variants in WNT10A have been found to cosegregate with pathogenic variants in GREM2, LAMA3, and/or BCOR in individuals with nonsyndromic tooth agenesis [Kantaputra et al 2015, Dinckan et al 2018b, Du et al 2018].

Related Genetic Counseling Issues

Family planning

  • The optimal time for determination of genetic risk and discussion of the availability of prenatal/preimplantation genetic testing is before pregnancy.
  • It is appropriate to offer genetic counseling (including discussion of potential risks to offspring and reproductive options) to young adults who are affected.

Prenatal Testing and Preimplantation Genetic Testing

Once the nonsyndromic tooth agenesis-causing pathogenic variant(s) have been identified in an affected family member, prenatal and preimplantation genetic testing are possible.

Differences in perspective may exist among medical professionals and within families regarding the use of prenatal testing. While most centers would consider use of prenatal testing to be a personal decision, discussion of these issues may be helpful.


GeneReviews staff has selected the following disease-specific and/or umbrella support organizations and/or registries for the benefit of individuals with this disorder and their families. GeneReviews is not responsible for the information provided by other organizations. For information on selection criteria, click here.

5. Management

There is no standard of care procedure or clinical practice guideline for management of nonsyndromic tooth agenesis (NSTA).

Evaluations Following Initial Diagnosis

To establish the extent of disease and needs in an individual diagnosed with NSTA, the evaluations summarized in Table 3 (if not performed as part of the evaluation that led to the diagnosis) are recommended.

Table 3.

Recommended Evaluations Following Initial Diagnosis in Individuals with Nonsyndromic Tooth Agenesis

Dental Pediatric dental eval in children
  • Clinical exam incl hard tissue exams & radiographs (bitewings, individualized periapicals, & orthopantomographs) 1
  • Referral to orthodontic & prosthodontic providers
Clinical assessment of feeding/chewing in children (in cases of oligodontia)Consider referral to feeding specialist if clinical concerns based on severity of tooth agenesis.
Orthodontics / general dentistry eval in adolescents & adultsClinical & radiographic exam (e.g., panoramic, cepholometric radiographs, cone beam computed tomography)
By genetics professionals 2To inform affected persons & families re nature, MOI, & implications of NSTA to facilitate medical & personal decision making
Family support
& resources
Assess need for:

Medical geneticist, certified genetic counselor, certified advanced genetic nurse

Treatment of Manifestations

Table 4.

Treatment of Manifestations in Individuals with Nonsyndromic Tooth Agenesis

Oral hygiene Standard treatment per dentistPediatric dentists typically treat patients from infancy to age 14 yrs; then, transition to an adult dentist should be considered.
Maintenance of existing dentition Diet counselingNutritional counseling to incl non- or low-cariogenic foods & eliminate unhealthy habits
Fluoride varnishBiannual placement to prevent dental caries/cavities
Fluoride sealantsPlaced on deep pits & fissures to prevent caries/cavities
Mouth guardTo prevent dental trauma & loss of additional permanent teeth
Preservation of primary teeth that are missing successor permanent teeth Maintenance of dental arch length until growth is complete & implants can be placedArch length must be maintained until orthodontic appliances are complete or until implants are placed after growth is complete, age 6 to adulthood.
Prosthodontics Adjustable appliance to accommodate normal craniofacial growth & development
  • In those ages 6-18 yrs
  • Also serves psychological & functional purposes
Prosthetic replacement of missing teeth following orthodontic treatment
  • In those ages 12-18 yrs
  • Emphasis on functional & esthetic success
Space redistribution, alignment, bite correction Standard treatment per orthodontistTypically after age 12 yrs
Missing teeth Implant placement 1, 2For single tooth implant, in adulthood / after growth is complete
Implant retained prothesis 1, 2For multiple missing teeth, in adulthood / after growth is complete
Orthognathic surgeryIf skeletal discrepancies are present, in adulthood / after growth is complete

Implants should only be placed after the majority of skeletal growth is completed.


Extraction of primary teeth and/or bone augmentation procedures may be necessary before implant placement.

Prevention of Secondary Complications

It is recommended that individuals with (or suspected of having) nonsyndromic tooth agenesis be followed by a dentist at least every six months to ensure maintenance of remaining dentition. Oral health disease prevention for remaining dentition often includes dietary counseling, fluoride sealants, and mouth guards (see Table 4).


Table 5.

Recommended Surveillance in Individuals with Nonsyndromic Tooth Agenesis

Childhood and adolescence Hard tissue exams & radiographs (bitewings, individualized periapicals, & orthopantomographs)Biannually or w/frequency based on individual factors
Orthodontic eval to determine appropriate timing of orthodontic interventionPrior to puberty
Assessment of alveolar ridgePrior to implant placement
All ages after tooth eruption Caries risk assessmentEvery 6 mos or as recommended by dentist
Assessment of deep pits & fissures treated w/sealants to evaluate for retention & efficacyBiannually

Evaluation of Relatives at Risk

It is appropriate to clarify the clinical and/or genetic status (when possible) of apparently asymptomatic older and younger at-risk relatives of an affected individual in order to identify as early as possible those who would benefit from prompt initiation of dental treatment. Evaluations can include:

  • Complete clinical intra- and extraoral examinations and radiographs (see Table 3);
  • Molecular genetic testing if the pathogenic variant(s) in the family are known.

See Genetic Counseling for issues related to testing of at-risk relatives for genetic counseling purposes.

Chapter Notes

Author Notes

Ariadne Letra is a dentist with additional formal training in Human Molecular Genetics and a Professor in the Department of Diagnostic and Biomedical Sciences and Center for Craniofacial Research at UTHealth School of Dentistry at Houston. Dr Letra has adjunct faculty appointments at the Pediatric Research Center, UTHealth McGovern Medical School, and at the University of Texas MD Anderson Cancer Center Graduate School of Biomedical Sciences. Dr Letra's research focuses on the cellular and molecular basis of complex oral traits and anomalies, particularly craniofacial and dental anomalies. Her work has identified numerous genes and gene variants associated with these conditions. Additional work in her lab focuses on identifying common molecular players linking oral and general health conditions. Dr Letra has published 98 peer-reviewed original articles, two invited book chapters, four invited review articles, and more than 180 abstracts related to craniofacial anomalies and oral diseases/conditions. Her research has been continuously supported by grants from the National Institutes of Health and additional funding agencies.

Brett Chiquet is a board-certified pediatric dentist and Associate Professor in the Department of Pediatric Dentistry at UTHealth School of Dentistry. Dr Chiquet treats all children, including patients with special health care needs. Dr Chiquet helps teach dental residents how to comprehensively treat all pediatric patients, including anticipatory guidance, prevention, restorative dentistry, growth and development, special health care needs, hospital dentistry, behavior guidance, trauma, and oral pathology. The resident clinic provides comprehensive care for children ages 0-21, including management of developing oral tissues and occlusion. Patients with tooth agenesis are monitored for treatment at appropriate time points, balancing growth and development of the oral structures and the developing psyche of the patient. Dr Chiquet's clinical and research interest is cleft lip and palate, which often co-occur with tooth agenesis.

Emily Hansen-Kiss is a board-certified genetic counselor and Assistant Professor in the Department of Diagnostic and Biomedical Sciences at UTHealth School of Dentistry. Ms Hansen-Kiss has served as the genetic counselor in the Cleft and Craniofacial Clinics at Shriners Hospitals for Children – Houston, and UTHealth/Memorial Herman Hospital for the last two years, where she has gained extensive experience counseling patients and families about syndromic and nonsyndromic orofacial conditions. Ms Hansen-Kiss has also been involved in teaching genetics with an orofacial focus to the UTHealth School of Dentistry and the UTHealth Genetic Counseling graduate program students.


This study was supported by the UTHealth School of Dentistry Summer Student Research Program (SM and EH) and UTHealth School of Dentistry start up funds to AL and BC.

Revision History

  • 22 July 2021 (ma) Review posted live
  • 2 October 2020 (al) Original submission


Literature Cited

  • Adorno-Farias D, Ortega-Pinto A, Gajardo P, Salazar A, Morales-Bozo I, Werlinger F, Rojas-Flores S, Molina-Berríos A, Echeverría-López S, Jara-Sandoval J, Jara L, Urzúa B. Diversity of clinical, radiographic and genealogical findings in 41 families with amelogenesis imperfecta. J Appl Oral Sci. 2019;27:e20180359. [PMC free article: PMC6442841] [PubMed: 30970114]
  • Al-Ani AH, Antoun JS, Thomson WM, Merriman TR, Farella M. Hypodontia: an update on its etiology, classification, and clinical management. Biomed Res Int. 2017;2017:9378325. [PMC free article: PMC5376450] [PubMed: 28401166]
  • Basha M, Demeer B, Revencu N, Helaers R, Theys S, Bou Saba S, Boute O, Devauchelle B, Francois G, Bayet B, Vikkula M. Whole exome sequencing identifies mutations in 10% of patients with familial non-syndromic cleft lip and/or palate in genes mutated in well-known syndromes. J Med Genet. 2018;55:449–58. [PubMed: 29500247]
  • Dinckan N, Du R, Akdemir ZC, Bayram Y, Jhangiani SN, Doddapaneni H, Hu J, Muzny DM, Guven Y, Aktoren O, Kayserili H, Boerwinkle E, Gibbs RA, Posey JE, Lupski JR, Uyguner ZO, Letra A. A biallelic ANTXR1 variant expands the anthrax toxin receptor associated phenotype to tooth agenesis. Am J Med Genet A. 2018a;176:1015–22. [PMC free article: PMC5933053] [PubMed: 29436111]
  • Dinckan N, Du R, Petty LE, Coban-Akdemir Z, Jhangiani SN, Paine I, Baugh EH, Erdem AP, Kayserili H, Doddapaneni H, Hu J, Muzny DM, Boerwinkle E, Gibbs RA, Lupski JR, Uyguner ZO, Below JE, Letra A. Whole-exome sequencing identifies novel variants for tooth agenesis. J Dent Res. 2018b;97:49–59. [PMC free article: PMC6728545] [PubMed: 28813618]
  • Du R, Dinckan N, Song X, Coban-Akdemir Z, Jhangiani SN, Guven Y, Aktoren O, Kayserili H, Petty LE, Muzny DM, Below JE, Boerwinkle E, Wu N, Gibbs RA, Posey JE, Lupski JR, Letra A, Uyguner ZO. Identification of likely pathogenic and known variants in TSPEAR, LAMB3, BCOR, and WNT10A in four Turkish families with tooth agenesis. Hum Genet. 2018;137:689–703. [PMC free article: PMC6165673] [PubMed: 30046887]
  • Dugan SL, Temme RT, Olson RA, Mikhailov A, Law R, Mahmood H, Noor A, Vincent JB. New recessive truncating mutation in LTBP3 in a family with oligodontia, short stature, and mitral valve prolapse. Am J Med Genet A. 2015;167:1396–99. [PubMed: 25899461]
  • Endo T, Ozoe R, Kubota M, Akiyama M, Shimooka S. A survey of hypodontia in Japanese orthodontic patients. Am J Orthod Dentofacial Orthop. 2006;129:29–35. [PubMed: 16443475]
  • Fan Z, Sun S, Liu H, Yu M, Liu Z, Wong SW, Liu Y, Han D, Feng H. Novel PITX2 mutations identified in Axenfeld-Rieger syndrome and the pattern of PITX2-related tooth agenesis. Oral Dis. 2019;25:2010–9. [PubMed: 31529555]
  • Dental Radiograph Guideline. Guideline on prescribing dental radiographs for infants, children, adolescents, and persons with special health care needs. Pediatr Dent. 2016;38:355–7. [PubMed: 27931477]
  • Güven Y, Bal E, Altunoglu U, Yücel E, Hadj-Rabia S, Koruyucu M, Bahar Tuna E, Çıldır Ş, Aktören O, Bodemer C, Uyguner ZO, Smahi A, Kayserili H. Turkish ectodermal dysplasia cohort: from phenotype to genotype in 17 families. Cytogenet Genome Res. 2019;157:189–96. [PubMed: 30974434]
  • Haddaji Mastouri M, De Coster P, Zaghabani A, Jammali F, Raouahi N, Ben Salem A, Saad A, Coucke P, H'mida Ben Brahim D. Genetic study of non-syndromic tooth agenesis through the screening of paired box 9, msh homeobox 1, axin 2, and Wnt family member 10A genes: a case-series. Eur J Oral Sci. 2018;126:24–32. [PubMed: 29114927]
  • Hajianpour MJ, Bombei H, Lieberman SM, Revell R, Krishna R, Gregorsok R, Kao S, Milunsky JM. Dental issues in lacrimo-auriculo-dento-digital syndrome: an autosomal dominant condition with clinical and genetic variability. J Am Dent Assoc. 2017;148:157–63. [PubMed: 28043400]
  • Hennekam RCM, Krantz IA, Allanson JE. Gorlin's Syndromes of the Head and Neck. 5th ed. Oxford University Press. 2010.
  • Issa YA, Kamal L, Rayyan AA, Dweik D, Pierce S, Lee MK, King MC, Walsh T, Kanaan M. Mutation of KREMEN1, a modulator of Wnt signaling, is responsible for ectodermal dysplasia including oligodontia in Palestinian families. Eur J Hum Genet. 2016;24:1430–5. [PMC free article: PMC5027678] [PubMed: 27049303]
  • Jónsson H, Sulem P, Kehr B, Kristmundsdottir S, Zink F, Hjartarson E, Hardarson MT, Hjorleifsson KE, Eggertsson HP, Gudjonsson SA, Ward LD, Arnadottir GA, Helgason EA, Helgason H, Gylfason A, Jonasdottir A, Jonasdottir A, Rafnar T, Frigge M, Stacey SN, Th Magnusson O, Thorsteinsdottir U, Masson G, Kong A, Halldorsson BV, Helgason A, Gudbjartsson DF, Stefansson K. Parental influence on human germline de novo mutations in 1,548 trios from Iceland. Nature. 2017;549:519–22. [PubMed: 28959963]
  • Kantaputra P, Sripathomsawat W. WNT10A and isolated hypodontia. Am J Med Genet A. 2011;155A:1119–22. [PubMed: 21484994]
  • Kantaputra PN, Hutsadaloi A, Kaewgahya M, Intachai W, German R, Koparal M, Leethanakul C, Tolun A, Ketudat Cairns JR. WNT10B mutations associated with isolated dental anomalies. Clin Genet. 2018;93:992–9. [PubMed: 29364501]
  • Kantaputra PN, Kaewgahya M, Hatsadaloi A, Vogel P, Kawasaki K, Ohazama A, Ketudat Cairns GREMLIN JR. 2 mutations and dental anomalies. J Dent Res. 2015;94:1646–52. [PubMed: 26416033]
  • Katti S, Oswal P, Vas A. Ellis-van Creveld syndrome: a rare case report. Journal of Interdisciplinary Dentistry. 2019;9:35–8.
  • Klein OD, Oberoi S, Huysseune A, Hovorakova M, Peterka M, Peterkova R. Developmental disorders of the dentition: an update. Am J Med Genet C Semin Med Genet. 2013;163C:318–32. [PMC free article: PMC3844689] [PubMed: 24124058]
  • Lammi L, Arte S, Somer M, Jarvinen H, Lahermo P, Thesleff I, Pirinen S, Nieminen P. Mutations in AXIN2 cause familial tooth agenesis and predispose to colorectal cancer. Am J Hum Genet. 2004;74:1043–50. [PMC free article: PMC1181967] [PubMed: 15042511]
  • Magruder S, Carter E, Williams MA, English J, Akyalcin S, Letra A. Further evidence for the role of WNT10A, WNT10B and GREM2 as candidate genes for isolated tooth agenesis. Orthod Craniofac Res. 2018;21:258–63. [PubMed: 30246922]
  • Massink MP, Créton MA, Spanevello F, Fennis WM, Cune MS, Savelberg SM, Nijman IJ, Maurice MM, van den Boogaard MJ, van Haaften G. Loss-of-function mutations in the WNT co-receptor LRP6 cause autosomal-dominant oligodontia. Am J Hum Genet. 2015;97:621–26. [PMC free article: PMC4596913] [PubMed: 26387593]
  • Meczekalski B, Podfigurna-Stopa A, Smolarczyk R, Katulski K, Genazzani AR. Kallmann syndrome in women: from genes to diagnosis and treatment. Gynecol Endocrinol. 2013;29:296–300. [PubMed: 23368665]
  • Mumtaz S, Nalbant G, Yildiz Bolukbasi E, Huma Z, Ahmad N, Tolun A, Malik S. Novel EDAR mutation in tooth agenesis and variable associated features. Eur J Med Genet. 2020;63:103926. [PubMed: 32325225]
  • Murakami A, Yasuhira S, Mayama H, Miura H, Maesawa C, Satoh K. Characterization of PAX9 variant P20L identified in a Japanese family with tooth agenesis. PLoS One. 2017;12:e0186260. [PMC free article: PMC5638407] [PubMed: 29023497]
  • Ockeloen CW, Khandelwal KD, Dreesen K, Ludwig KU, Sullivan R, van Rooij IALM, Thonissen M, Swinnen S, Phan M, Conte F, Ishorst N, Gilissen C. RoaFuentes L, van de Vorst M, Henkes A, Steehouwer M, van Beusekom E, Bloemen M, Vankeirsbilck B, Bergé S, Hens G, Schoenaers J, Poorten VV, Roosenboom J, Verdonck A, Devriendt K, Roeleveldt N, Jhangiani SN, Vissers LELM, Lupski JR, de Ligt J, Von den Hoff JW, Pfundt R, Brunner HG, Zhou H, Dixon J, Mangold E, van Bokhoven H, Dixon MJ, Kleefstra T, Hoischen A, Carels CEL. Novel mutations in LRP6 highlight the role of WNT signaling in tooth agenesis. Genet Med. 2016;18:1158–62. [PMC free article: PMC5018235] [PubMed: 26963285]
  • Öz E, Kirzioglu Z. Oro-dental and radiographic findings of Weyers acrofacial dysostosis: report of a rare case. Bezmialem Science. 2020;8:89–91.
  • Ozcan A, Acer H, Ciraci S, Gumus H, Karakukcu M, Patiroglu T, Ozdemir MA, Unal E. Neuroblastoma in a child with Wolf-Hirschhorn syndrome. J Pediatr Hematol Oncol. 2017;39:e224–6. [PubMed: 28085742]
  • Paradowska-Stolarz A. MSX1 gene in the etiology orofacial deformities. Postepy Hig Med Dosw (Online). 2015;69:1499–504. [PubMed: 27259221]
  • Paradowska-Stolarz AM. Wolf-Hirschhorn syndrome (WHS) - literature review on the features of the syndrome. Adv Clin Exp Med. 2014;23:485–9. [PubMed: 24979523]
  • Paranjyothi MV, Kumaraswamy KL, Begum LF, Manjunath K. Litha, Basheer S. Tooth agenesis: a susceptible indicator for colorectal cancer? J Cancer Res Ther. 2018;14:527–31. [PubMed: 29893310]
  • Peled A, Sarig O, Samuelov L, Bertolini M, Ziv L, Weissglas-Volkov D, Eskin-Schwartz M, Adase CA, Malchin N, Bochner R, Fainberg G, Goldberg I, Sugawara K, Baniel A, Tsuruta D, Luxenburg C, Adir N, Duverger O, Morasso M, Shalev S, Gallo RL, Shomron N, Paus R, Sprecher E. Mutations in TSPEAR, encoding a regulator of Notch signaling, affect tooth and hair follicle morphogenesis. PLoS Genet. 2016;12:e1006369. [PMC free article: PMC5065119] [PubMed: 27736875]
  • Petrof G, Nanda A, Howden J, Takeichi T, McMillan JR, Aristodemou S, Ozoemena L, Liu L, South AP, Pourreyron C, Dafou D, Proudfoot LE, Al-Ajmi H, Akiyama M, McLean WH, Simpson MA, Parsons M, McGrath JA. Mutations in GRHL2 result in an autosomal-recessive ectodermal dysplasia syndrome. Am J Hum Genet. 2014;95:308–14. [PMC free article: PMC4157147] [PubMed: 25152456]
  • Phan M, Conte F, Khandelwal KD, Ockeloen CW, Bartzela T, Kleefstra T, van Bokhoven H, Rubini M, Zhou H, Carels CE. Tooth agenesis and orofacial clefting: genetic brothers in arms? Hum Genet. 2016;135:1299–327. [PMC free article: PMC5065589] [PubMed: 27699475]
  • Polder BJ, Vant Hof MA, Van der Linden FPGM, Kuijpers-Jagtman AMK. A meta-analysis of the prevalence of dental agenesis of permanent teeth. Community Dent Oral Epidemiol. 2004;32:217–26. [PubMed: 15151692]
  • Rahbari R, Wuster A, Lindsay SJ, Hardwick RJ, Alexandrov LB, Al Turki S, Dominiczak A, et al. Timing, rates and spectra of human germline mutation. Nat Genet. 2016;48:126–33. [PMC free article: PMC4731925] [PubMed: 26656846]
  • Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015;17:405–24. [PMC free article: PMC4544753] [PubMed: 25741868]
  • Rodrigues AS, Teixeira EC, Antunes LS, Nelson-Filho P, Cunha AS, Levy SC, de Souza Araújo MT, de Carvalho Ramos AG, Cruz GV, Omori MA, Matsumoto MAN, Vieira AR, Küchler EC, Marañón-Vásquez GA, Antunes LAA. Association between craniofacial morphological patterns and tooth agenesis-related genes. Prog Orthod. 2020;21:9. [PMC free article: PMC7131971] [PubMed: 32249341]
  • Ross J, Fennis W, de Leeuw N, Cune M, Willemze A, Rosenberg A, Ploos van Amstel HK, Créton M, van den Boogaard MJ. Concurrent manifestation of oligodontia and thrombocytopenia caused by a contiguous gene deletion in 12p13.2: A three-generation clinical report. Mol Genet Genomic Med. 2019;7:e679. [PMC free article: PMC6565550] [PubMed: 30950205]
  • Smith CEL, Poulter JA, Antanaviciute A, Kirkham J, Brookes SJ, Inglehearn CF, Mighell AJ. Amelogenesis imperfecta; genes, proteins, and pathways. Front Physiol. 2017;8:435. [PMC free article: PMC5483479] [PubMed: 28694781]
  • Song S, Zhao R, He H, Zhang J, Feng H, Lin L. WNT10A variants are associated with non-syndromic tooth agenesis in the general population. Hum Genet. 2014;133:117–24. [PubMed: 24043634]
  • van den Boogaard MJ, Créton M, Bronkhorst Y, van der Hout A, Hennekam E, Lindhout D, Cune M, Ploos van Amstel HK. Mutations in WNT10A are present in more than half of isolated hypodontia cases. J Med Genet. 2012;49:327–31. [PubMed: 22581971]
  • Vink CP, Ockeloen CW, ten Kate S, Koolen DA, van Amstel JKP, Kuijpers-Jagtman AM, van Heumen CC, Kleefstra T, Carels CEL. Variability in dentofacial phenotypes in four families with WNT10A mutations. Eur J Hum Genet. 2014;22:1063–70. [PMC free article: PMC4135412] [PubMed: 24398796]
  • Williams MA, Letra A. The changing landscape in the genetic etiology of human tooth agenesis. Genes (Basel). 2018;9:255. [PMC free article: PMC5977195] [PubMed: 29772684]
  • Yang J, Wang SK, Choi M, Reid BM, Hu Yuanyuan, Lee YL, Herzog CR, Kim-Berman H, Lee M, Enke PJ, Kent Lloyd KC, Simmer JP, Hu JCC. Taurodontism, variations in tooth number, and misshapened crowns in Wnt10a null mice and human kindreds. Mol Genet Genomic Med. 2015;3:40–58. [PMC free article: PMC4299714] [PubMed: 25629078]
  • Yu M, Wong SW, Han D, Cai T. Genetic analysis: Wnt and other pathways in nonsyndromic tooth agenesis. Oral Dis. 2019;25:646–51. [PMC free article: PMC6318069] [PubMed: 29969831]
  • Yu P, Yang W, Han D, Wang X, Guo S, Li J, Li F, Zhang X, Wong SW, Bai B, Liu Y, Du J, Sun ZS, Shi S, Feng H, Cai T. Mutations in WNT10B are identified in individuals with oligodontia. Am J Hum Genet. 2016;99:195–201. [PMC free article: PMC5005437] [PubMed: 27321946]
  • Yuan Q, Zhao M, Tandon B, Maili L, Liu X, Zhang A, Baugh EH, Tran T, Silva RM, Hecht JT, Swindell EC, Wagner DS, Letra A. Role of WNT10A in failure of tooth development in humans and zebrafish. Mol Genet Genomic Med. 2017;5:730–41. [PMC free article: PMC5702573] [PubMed: 29178643]
  • Zeng B, Zhao Q, Li S, Lu H, Lu J, Ma L, Zhao W, Yu D. Novel EDA or EDAR mutations identified in patients with X-linked hypohidrotic ectodermal dysplasia or non-syndromic tooth agenesis. Genes (Basel). 2017;8:259. [PMC free article: PMC5664109] [PubMed: 28981473]
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