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Tooth agenesis

MedGen UID:
869773
Concept ID:
C4024202
Congenital Abnormality; Finding
Synonyms: Decreased number of teeth; Decreased tooth count; Failure of development of some teeth; Fewer teeth than normal; Missing some teeth; Reduced number of teeth
 
HPO: HP:0009804

Definition

The absence of one or more teeth from the normal series by a failure to develop [from HPO]

Conditions with this feature

Hypogonadotropic hypogonadism 2 with or without anosmia
MedGen UID:
289648
Concept ID:
C1563720
Disease or Syndrome
Isolated gonadotropin-releasing hormone (GnRH) deficiency (IGD) is characterized by inappropriately low serum concentrations of the gonadotropins LH (luteinizing hormone) and FSH (follicle-stimulating hormone) in the presence of low circulating concentrations of sex steroids. IGD is associated with a normal sense of smell (normosmic IGD) in approximately 40% of affected individuals and an impaired sense of smell (Kallmann syndrome) in approximately 60%. IGD can first become apparent in infancy, adolescence, or adulthood. Infant boys with congenital IGD often have micropenis and cryptorchidism. Adolescents and adults with IGD have clinical evidence of hypogonadism and incomplete sexual maturation on physical examination. Adult males with IGD tend to have prepubertal testicular volume (i.e., <4 mL), absence of secondary sexual features (e.g., facial and axillary hair growth, deepening of the voice), decreased muscle mass, diminished libido, erectile dysfunction, and infertility. Adult females have little or no breast development and primary amenorrhea. Although skeletal maturation is delayed, the rate of linear growth is usually normal except for the absence of a distinct pubertal growth spurt.
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.
Epiphyseal dysplasia, multiple, 2
MedGen UID:
333092
Concept ID:
C1838429
Disease or Syndrome
Autosomal dominant multiple epiphyseal dysplasia (MED) presents in early childhood, usually with pain in the hips and/or knees after exercise. Affected children complain of fatigue with long-distance walking. Waddling gait may be present. Adult height is either in the lower range of normal or mildly shortened. The limbs are relatively short in comparison to the trunk. Pain and joint deformity progress, resulting in early-onset osteoarthritis, particularly of the large weight-bearing joints.
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
MedGen UID:
340124
Concept ID:
C1854063
Disease or Syndrome
Dilated cardiomyopathy with woolly hair and keratoderma (DCWHK) is characterized by the presence of woolly or sparse hair from birth. Some patients exhibit fragile skin with blisters/erosions after minor mechanical trauma, with hyperkeratosis and epidermolytic keratoderma developing in early childhood. Cardiomyopathy may become apparent in the first decade of life, and early death due to heart failure has been reported, but patients may remain asymptomatic into the fourth decade of life. Some patients exhibit an arrhythmogenic form of cardiomyopathy, with sudden death in early adulthood (Carvajal-Huerta, 1998; Whittock et al., 2002; Alcalai et al., 2003; Uzumcu et al., 2006). Another syndrome involving cardiomyopathy, woolly hair, and keratoderma (Naxos disease; 601214) is caused by mutation in the plakoglobin gene (JUP; 173325). Also see 610476 for a similar disorder caused by homozygous mutation in the DSC2 gene (125645). Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis (DCWHKTA; 615821) is caused by heterozygous mutation in DSP. An isolated form of striated PPK (PPKS2; 612908) is also caused by heterozygous mutation in DSP. Reviews In a review of cardiocutaneous syndromes and arrhythmogenic cardiomyopathy, Sen-Chowdhry and McKenna (2014) stated that although the cardiac component of Carvajal syndrome was originally considered dilated cardiomyopathy, many of its features resemble those of arrhythmogenic cardiomyopathy (see 607450). In addition, they noted that different disease subtypes have been found to coexist within the same kindred, suggesting a role for modifier genes and/or environmental influences.
Tooth agenesis, selective, X-linked, 1
MedGen UID:
410143
Concept ID:
C1970757
Disease or Syndrome
Any tooth agenesis in which the cause of the disease is a mutation in the EDA gene.
Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis
MedGen UID:
862830
Concept ID:
C4014393
Disease or Syndrome
Keratoderma with woolly hair is a group of related conditions that affect the skin and hair and in many cases increase the risk of potentially life-threatening heart problems. People with these conditions have hair that is unusually coarse, dry, fine, and tightly curled. In some cases, the hair is also sparse. The woolly hair texture typically affects only scalp hair and is present from birth. Starting early in life, affected individuals also develop palmoplantar keratoderma, a condition that causes skin on the palms of the hands and the soles of the feet to become thick, scaly, and calloused.\n\nKeratoderma with woolly hair comprises several related conditions with overlapping signs and symptoms. Researchers have recently proposed classifying keratoderma with woolly hair into four types, based on the underlying genetic cause. Type I, also known as Naxos disease, is characterized by palmoplantar keratoderma, woolly hair, and a form of cardiomyopathy called arrhythmogenic right ventricular cardiomyopathy (ARVC). Type II, also known as Carvajal syndrome, has hair and skin abnormalities similar to type I but features a different form of cardiomyopathy, called dilated left ventricular cardiomyopathy. Type III also has signs and symptoms similar to those of type I, including ARVC, although the hair and skin abnormalities are often milder. Type IV is characterized by palmoplantar keratoderma and woolly and sparse hair, as well as abnormal fingernails and toenails. Type IV does not appear to cause cardiomyopathy.\n\nCardiomyopathy, which is a disease of the heart muscle, is a life-threatening health problem that can develop in people with keratoderma with woolly hair. Unlike the other features of this condition, signs and symptoms of cardiomyopathy may not appear until adolescence or later. Complications of cardiomyopathy can include an abnormal heartbeat (arrhythmia), heart failure, and sudden death.
Osteogenesis imperfecta type 16
MedGen UID:
864047
Concept ID:
C4015610
Disease or Syndrome
Osteogenesis imperfecta type XVI (OI16) is characterized by prenatal onset of multiple fractures of ribs and long bones, blue sclerae, decreased ossification of the skull, and severe demineralization. Heterozygous family members may exhibit recurrent fractures with minimal trauma, osteopenia, and blue sclerae (Keller et al., 2018; Lindahl et al., 2018).
Blepharocheilodontic syndrome 2
MedGen UID:
1623594
Concept ID:
C4540127
Disease or Syndrome
Blepharocheilodontic (BCD) syndrome is a disorder that is present at birth. It mainly affects the eyelids (blepharo-), upper lip (-cheilo-), and teeth (-dontic).\n\nPeople with BCD syndrome have lower eyelids that turn out so that the inner surface is exposed (ectropion). The outside of the lower lid may sag away from the eye (euryblepharon), and the eyelids may not be able to close completely (lagophthalmia). There can be extra eyelashes (distichiasis) on the upper eyelids, ranging from a few extra eyelashes to a full extra set. These eyelashes do not grow along the edge of the eyelid with the normal lashes, but out of its inner lining. When the abnormal eyelashes touch the eyeball, they can cause damage to the clear covering of the eye (cornea). Affected individuals may also have widely spaced eyes (hypertelorism), a flat face, and a high forehead.\n\nOccasionally people with BCD syndrome have additional features, including an obstruction of the anal opening (imperforate anus); malformation or absence of the butterfly-shaped gland in the lower neck called the thyroid, resulting in lack of thyroid gland function; or fused fingers or toes (syndactyly). Very rarely, affected individuals have incompletely formed arms or legs (limb reduction defects) or a spinal cord abnormality known as spina bifida.\n\nOther features of BCD syndrome usually include openings on both sides of the upper lip (bilateral cleft lip) and an opening in the roof of the mouth (cleft palate). Affected individuals may have fewer teeth than normal (oligodontia) and their teeth are often smaller than usual and cone-shaped. The dental abnormalities affect both primary teeth (sometimes called "baby teeth") and secondary (permanent) teeth. Other frequent features include sparse, fine hair and abnormal nails.
Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis
MedGen UID:
1676818
Concept ID:
C5193055
Disease or Syndrome
Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis (SSASKS)is characterized by disproportionate short stature, defective tooth enamel formation, and skeletal dysplasia with severe scoliosis in some patients. Variable features include facial dysmorphism, moderate hearing impairment, and mildly impaired intellectual development (Ashikov et al., 2018).
Neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies
MedGen UID:
1684772
Concept ID:
C5231481
Disease or Syndrome
Autosomal recessive Robinow syndrome
MedGen UID:
1770070
Concept ID:
C5399974
Disease or Syndrome
ROR2-related Robinow syndrome is characterized by distinctive craniofacial features, skeletal abnormalities, and other anomalies. Craniofacial features include macrocephaly, broad prominent forehead, low-set ears, ocular hypertelorism, prominent eyes, midface hypoplasia, short upturned nose with depressed nasal bridge and flared nostrils, large and triangular mouth with exposed incisors and upper gums, gum hypertrophy, misaligned teeth, ankyloglossia, and micrognathia. Skeletal abnormalities include short stature, mesomelic or acromesomelic limb shortening, hemivertebrae with fusion of thoracic vertebrae, and brachydactyly. Other common features include micropenis with or without cryptorchidism in males and reduced clitoral size and hypoplasia of the labia majora in females, renal tract abnormalities, and nail hypoplasia or dystrophy. The disorder is recognizable at birth or in early childhood.

Professional guidelines

PubMed

Jiang C, Yu K, Shen Y, Wang F, Dai Q, Wu Y
Clin Oral Investig 2023 Aug;27(8):4369-4378. Epub 2023 May 15 doi: 10.1007/s00784-023-05056-5. PMID: 37184613
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
Boeira Junior BR, Echeverrigaray S
Tohoku J Exp Med 2012 Apr;226(4):243-9. doi: 10.1620/tjem.226.243. PMID: 22452934

Recent clinical studies

Etiology

Kanchanasevee C, Chantarangsu S, Pittayapat P, Porntaveetus T
BMC Oral Health 2023 Jan 23;23(1):37. doi: 10.1186/s12903-023-02753-1. PMID: 36691053Free PMC Article
Zhu Y, Zhang Y, Dong J, Ruan W, Yang S, Huang P, Duan X
Oral Dis 2023 Nov;29(8):3168-3172. Epub 2022 Dec 20 doi: 10.1111/odi.14459. PMID: 36478500
Baba R, Sato A, Arai K
Odontology 2022 Jan;110(1):183-192. Epub 2021 Jul 8 doi: 10.1007/s10266-021-00634-z. PMID: 34236541
Jurek A, Gozdowski D, Czochrowska EM, Zadurska M
Int J Environ Res Public Health 2021 Nov 12;18(22) doi: 10.3390/ijerph182211876. PMID: 34831629Free PMC Article
Yin W, Bian Z
Oral Dis 2016 May;22(4):265-73. Epub 2016 Jan 13 doi: 10.1111/odi.12400. PMID: 26600092

Diagnosis

Zhang H, Gong X, Xu X, Wang X, Sun Y
Int J Oral Sci 2023 Jan 6;15(1):5. doi: 10.1038/s41368-022-00208-x. PMID: 36604408Free PMC Article
Bonczek O, Krejci P, Izakovicova-Holla L, Cernochova P, Kiss I, Vojtesek B
Clin Genet 2021 Apr;99(4):493-502. Epub 2021 Feb 16 doi: 10.1111/cge.13892. PMID: 33249565
Fernandez CCA, Pereira CVCA, Luiz RR, Vieira AR, De Castro Costa M
Angle Orthod 2018 Mar;88(2):195-201. Epub 2017 Dec 7 doi: 10.2319/071917-482.1. PMID: 29215300Free PMC Article
Phan M, Conte F, Khandelwal KD, Ockeloen CW, Bartzela T, Kleefstra T, van Bokhoven H, Rubini M, Zhou H, Carels CE
Hum Genet 2016 Dec;135(12):1299-1327. Epub 2016 Oct 3 doi: 10.1007/s00439-016-1733-z. PMID: 27699475Free PMC Article
Kjaer I
Crit Rev Oral Biol Med 1998;9(2):224-44. doi: 10.1177/10454411980090020501. PMID: 9603237

Therapy

Fonseca-Souza G, de Oliveira LB, Wambier LM, Scariot R, Feltrin-Souza J
Clin Oral Investig 2022 Aug;26(8):5089-5103. Epub 2022 Jun 21 doi: 10.1007/s00784-022-04540-8. PMID: 35729285
Malmgren B, Thesleff I, Dahllöf G, Åström E, Tsilingaridis G
Calcif Tissue Int 2021 Aug;109(2):121-131. Epub 2021 Mar 20 doi: 10.1007/s00223-021-00835-2. PMID: 33743023Free PMC Article
Shum M, Mahoney E, Naysmith K, Macfarlane S, Corbett R, Narsinh M, Natarajan A, Ramadas Y, Hitchings E, Anderson H
N Z Med J 2020 Oct 9;133(1523):41-54. PMID: 33032302
Yap AK, Klineberg I
Int J Prosthodont 2009 May-Jun;22(3):268-76. PMID: 19548409
Bergendal B
J Oral Rehabil 2008 Jan;35 Suppl 1:55-63. doi: 10.1111/j.1365-2842.2007.01829.x. PMID: 18181934

Prognosis

Bonczek O, Krejci P, Izakovicova-Holla L, Cernochova P, Kiss I, Vojtesek B
Clin Genet 2021 Apr;99(4):493-502. Epub 2021 Feb 16 doi: 10.1111/cge.13892. PMID: 33249565
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
Yin W, Bian Z
Oral Dis 2016 May;22(4):265-73. Epub 2016 Jan 13 doi: 10.1111/odi.12400. PMID: 26600092
Mues G, Kapadia H, Wang Y, D'Souza RN
J Craniofac Surg 2009 Sep;20 Suppl 2(Suppl 2):1652-4. doi: 10.1097/SCS.0b013e3181b2d3f3. PMID: 19816326Free PMC Article
Kjaer I
Crit Rev Oral Biol Med 1998;9(2):224-44. doi: 10.1177/10454411980090020501. PMID: 9603237

Clinical prediction guides

Ouyang W, Goh CE, Ng WB, Chew FT, Yap EPH, Hsu CS
Int J Mol Sci 2023 Mar 17;24(6) doi: 10.3390/ijms24065754. PMID: 36982827Free PMC Article
Kanchanasevee C, Chantarangsu S, Pittayapat P, Porntaveetus T
BMC Oral Health 2023 Jan 23;23(1):37. doi: 10.1186/s12903-023-02753-1. PMID: 36691053Free PMC Article
Bonczek O, Krejci P, Izakovicova-Holla L, Cernochova P, Kiss I, Vojtesek B
Clin Genet 2021 Apr;99(4):493-502. Epub 2021 Feb 16 doi: 10.1111/cge.13892. PMID: 33249565
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
Yin W, Bian Z
Oral Dis 2016 May;22(4):265-73. Epub 2016 Jan 13 doi: 10.1111/odi.12400. PMID: 26600092

Recent systematic reviews

Medina MCG, Bastos RTDRM, Mecenas P, Pinheiro JJV, Normando D
J Appl Oral Sci 2021;29:e20200955. Epub 2021 Aug 9 doi: 10.1590/1678-7757-2020-0955. PMID: 34378652Free PMC Article
Gawron-Jakubek W, Spaczynska J, Pitynski K, Loster BW
Ginekol Pol 2019;90(12):707-710. doi: 10.5603/GP.2019.0121. PMID: 31909464
Antonarakis GS, Palaska PK, Suri S
Orthod Craniofac Res 2017 Nov;20(4):216-226. Epub 2017 Oct 13 doi: 10.1111/ocr.12204. PMID: 29027749
Phan M, Conte F, Khandelwal KD, Ockeloen CW, Bartzela T, Kleefstra T, van Bokhoven H, Rubini M, Zhou H, Carels CE
Hum Genet 2016 Dec;135(12):1299-1327. Epub 2016 Oct 3 doi: 10.1007/s00439-016-1733-z. PMID: 27699475Free PMC Article
Khalaf K, Miskelly J, Voge E, Macfarlane TV
J Orthod 2014 Dec;41(4):299-316. doi: 10.1179/1465313314Y.0000000116. PMID: 25404667

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