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Dermo-odonto dysplasia

MedGen UID:
377602
Concept ID:
C1852144
Disease or Syndrome
Synonyms: Dermoodontodysplasia; ECTODERMAL DYSPLASIA, HAIR-NAIL-TOOTH TYPE
SNOMED CT: Dermo-odonto dysplasia (721091003); Dermoodonto dysplasia (721091003); Dermo odontodysplasia (721091003)
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
 
Monarch Initiative: MONDO:0007449
OMIM®: 125640
Orphanet: ORPHA1660

Definition

Dermo-odonto dysplasia belongs to the group of tricho-odonto-onychial dysplasia. It has signs of variable severity: dry and thin skin, dental anomalies, nail alteration and trichodysplasia. [from SNOMEDCT_US]

Clinical features

From HPO
Partial congenital absence of teeth
MedGen UID:
43794
Concept ID:
C0020608
Congenital Abnormality
Tooth agenesis in some form is a common human anomaly that affects approximately 20% of the population. Although tooth agenesis is associated with numerous syndromes, several case reports describe nonsyndromic forms that are either sporadic or familial in nature, as reviewed by Gorlin et al. (1990). The incidence of familial tooth agenesis varies with each class of teeth. Most commonly affected are third molars (wisdom teeth), followed by either upper lateral incisors or lower second premolars; agenesis involving first and second molars is very rare. Also see 114600 and 302400. Selective tooth agenesis without associated systemic disorders has sometimes been divided into 2 types: oligodontia, defined as agenesis of 6 or more permanent teeth, and hypodontia, defined as agenesis of less than 6 teeth. The number in both cases does not include absence of third molars (wisdom teeth). Faulty use of the terms, however, have confounded their use. The term 'partial anodontia' is obsolete (Salinas, 1978). Genetic Heterogeneity of Selective Tooth Agenesis Other forms of selective tooth agenesis include STHAG2 (602639), mapped to chromosome 16q12; STHAG3 (604625), caused by mutation in the PAX9 gene (167416) on chromosome 14q12; STHAG4 (150400), caused by mutation in the WNT10A gene (606268) on chromosome 2q35; STHAG5 (610926), mapped to chromosome 10q11; STHAG7 (616724), caused by mutation in the LRP6 gene (603507) on chromosome 12p13; STHAG8 (617073), caused by mutation in the WNT10B gene (601906) on chromosome 12q13; STHAG9 (617275), caused by mutation in the GREM2 gene (608832) on chromosome 1q43; STHAG10 (620173), caused by mutation in the TSPEAR gene (612920) on chromosome 21q22; and STHAGX1 (313500), caused by mutation in the EDA gene (300451) on chromosome Xq13. A type of selective tooth agenesis that was formerly designated STHAG6 has been incorporated into the dental anomalies and short stature syndrome (DASS; 601216). Of 34 unrelated patients with nonsyndromic tooth agenesis, van den Boogaard et al. (2012) found that 56% (19 patients) had mutations in the WNT10A gene (STHAG4), whereas only 3% and 9% had mutations in the MSX1 (STHAG1) and PAX9 (STHAG3) genes, respectively. The authors concluded that WNT10A is a major gene in the etiology of isolated hypodontia. Genotype-Phenotype Correlations Yu et al. (2016) observed that the most frequently missing permanent teeth in WNT10B-associated oligodontia were the lateral incisors (83.3%), whereas premolars were missing only 51.4% of the time, which they noted was a pattern 'clearly different' from the oligodontia patterns resulting from WNT10A mutations. They also stated that the selective pattern in WNT10B mutants was different from that associated with mutations in other genes, such as MSX1, in which second premolars are missing, and PAX9, in which there is agenesis of molars.
Ectodermal dysplasia
MedGen UID:
8544
Concept ID:
C0013575
Disease or Syndrome
Ectodermal dysplasia is a group of conditions in which there is abnormal development of the skin, hair, nails, teeth, or sweat glands.
Dry skin
MedGen UID:
56250
Concept ID:
C0151908
Sign or Symptom
Skin characterized by the lack of natural or normal moisture.
Thin skin
MedGen UID:
140848
Concept ID:
C0423757
Finding
Reduction in thickness of the skin, generally associated with a loss of suppleness and elasticity of the skin.
Nail dysplasia
MedGen UID:
331737
Concept ID:
C1834405
Congenital Abnormality
The presence of developmental dysplasia of the nail.
Trichodysplasia
MedGen UID:
892721
Concept ID:
C4025700
Disease or Syndrome
Developmental dysplasia of the hair.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVDermo-odonto dysplasia
Follow this link to review classifications for Dermo-odonto dysplasia in Orphanet.

Professional guidelines

PubMed

Ohtsuka T, Fernandez-Del Castillo C, Furukawa T, Hijioka S, Jang JY, Lennon AM, Miyasaka Y, Ohno E, Salvia R, Wolfgang CL, Wood LD
Pancreatology 2024 Mar;24(2):255-270. Epub 2023 Dec 28 doi: 10.1016/j.pan.2023.12.009. PMID: 38182527
Northrup H, Aronow ME, Bebin EM, Bissler J, Darling TN, de Vries PJ, Frost MD, Fuchs Z, Gosnell ES, Gupta N, Jansen AC, Jóźwiak S, Kingswood JC, Knilans TK, McCormack FX, Pounders A, Roberds SL, Rodriguez-Buritica DF, Roth J, Sampson JR, Sparagana S, Thiele EA, Weiner HL, Wheless JW, Towbin AJ, Krueger DA; International Tuberous Sclerosis Complex Consensus Group
Pediatr Neurol 2021 Oct;123:50-66. Epub 2021 Jul 24 doi: 10.1016/j.pediatrneurol.2021.07.011. PMID: 34399110
Tanaka M, Fernández-Del Castillo C, Kamisawa T, Jang JY, Levy P, Ohtsuka T, Salvia R, Shimizu Y, Tada M, Wolfgang CL
Pancreatology 2017 Sep-Oct;17(5):738-753. Epub 2017 Jul 13 doi: 10.1016/j.pan.2017.07.007. PMID: 28735806

Recent clinical studies

Etiology

Escribano García C, Bachiller Carnicero L, Marín Urueña SI, Del Mar Montejo Vicente M, Izquierdo Caballero R, Morales Luengo F, Caserío Carbonero S
An Pediatr (Engl Ed) 2021 Oct;95(4):240-245. Epub 2021 Sep 10 doi: 10.1016/j.anpede.2020.07.024. PMID: 34511400
Stembalska A, Dudarewicz L, Śmigiel R
Adv Clin Exp Med 2021 Jun;30(6):641-647. doi: 10.17219/acem/134166. PMID: 34019743
Guerrini R, Barba C
Expert Rev Neurother 2021 Nov;21(11):1213-1224. Epub 2021 Apr 25 doi: 10.1080/14737175.2021.1915135. PMID: 33834938
Wright JT, Fete M, Schneider H, Zinser M, Koster MI, Clarke AJ, Hadj-Rabia S, Tadini G, Pagnan N, Visinoni AF, Bergendal B, Abbott B, Fete T, Stanford C, Butcher C, D'Souza RN, Sybert VP, Morasso MI
Am J Med Genet A 2019 Mar;179(3):442-447. Epub 2019 Jan 31 doi: 10.1002/ajmg.a.61045. PMID: 30703280Free PMC Article
Boudin E, Van Hul W
Best Pract Res Clin Endocrinol Metab 2018 Oct;32(5):707-723. Epub 2018 Jun 18 doi: 10.1016/j.beem.2018.06.003. PMID: 30449550

Diagnosis

Escribano García C, Bachiller Carnicero L, Marín Urueña SI, Del Mar Montejo Vicente M, Izquierdo Caballero R, Morales Luengo F, Caserío Carbonero S
An Pediatr (Engl Ed) 2021 Oct;95(4):240-245. Epub 2021 Sep 10 doi: 10.1016/j.anpede.2020.07.024. PMID: 34511400
Stembalska A, Dudarewicz L, Śmigiel R
Adv Clin Exp Med 2021 Jun;30(6):641-647. doi: 10.17219/acem/134166. PMID: 34019743
Guerrini R, Barba C
Expert Rev Neurother 2021 Nov;21(11):1213-1224. Epub 2021 Apr 25 doi: 10.1080/14737175.2021.1915135. PMID: 33834938
Wright JT, Fete M, Schneider H, Zinser M, Koster MI, Clarke AJ, Hadj-Rabia S, Tadini G, Pagnan N, Visinoni AF, Bergendal B, Abbott B, Fete T, Stanford C, Butcher C, D'Souza RN, Sybert VP, Morasso MI
Am J Med Genet A 2019 Mar;179(3):442-447. Epub 2019 Jan 31 doi: 10.1002/ajmg.a.61045. PMID: 30703280Free PMC Article
Boudin E, Van Hul W
Best Pract Res Clin Endocrinol Metab 2018 Oct;32(5):707-723. Epub 2018 Jun 18 doi: 10.1016/j.beem.2018.06.003. PMID: 30449550

Therapy

Abdel-Latif ME, Davis PG, Wheeler KI, De Paoli AG, Dargaville PA
Cochrane Database Syst Rev 2021 May 10;5(5):CD011672. doi: 10.1002/14651858.CD011672.pub2. PMID: 33970483Free PMC Article
Hellström A, Nilsson AK, Wackernagel D, Pivodic A, Vanpee M, Sjöbom U, Hellgren G, Hallberg B, Domellöf M, Klevebro S, Hellström W, Andersson M, Lund AM, Löfqvist C, Elfvin A, Sävman K, Hansen-Pupp I, Hård AL, Smith LEH, Ley D
JAMA Pediatr 2021 Apr 1;175(4):359-367. doi: 10.1001/jamapediatrics.2020.5653. PMID: 33523106Free PMC Article
Behnke J, Lemyre B, Czernik C, Zimmer KP, Ehrhardt H, Waitz M
Dtsch Arztebl Int 2019 Mar 8;116(11):177-183. doi: 10.3238/arztebl.2019.0177. PMID: 31014448Free PMC Article
Klingenberg C, Wheeler KI, McCallion N, Morley CJ, Davis PG
Cochrane Database Syst Rev 2017 Oct 17;10(10):CD003666. doi: 10.1002/14651858.CD003666.pub4. PMID: 29039883Free PMC Article
Poulain FR, Clements JA
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Prognosis

Saw J, Humphries K, Aymong E, Sedlak T, Prakash R, Starovoytov A, Mancini GBJ
J Am Coll Cardiol 2017 Aug 29;70(9):1148-1158. doi: 10.1016/j.jacc.2017.06.053. PMID: 28838364
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Inflamm Bowel Dis 2012 Aug;18(8):1566-72. Epub 2012 Jan 24 doi: 10.1002/ibd.22871. PMID: 22275300
Bhandari A, Bhandari V
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Clinical prediction guides

Donnan M, Anderson N, Hoq M, Donnan L
Bone Joint J 2023 Oct 1;105-B(10):1123-1130. doi: 10.1302/0301-620X.105B10.BJJ-2023-0143.R1. PMID: 37777201
Sathasivam HP, Sloan P, Thomson PJ, Robinson M
J Oral Pathol Med 2022 Feb;51(2):180-187. Epub 2021 Dec 15 doi: 10.1111/jop.13262. PMID: 34797585
Sharma N, Brown A, Bouras T, Kuiper JH, Eldridge J, Barnett A
Bone Joint J 2020 Jan;102-B(1):102-107. doi: 10.1302/0301-620X.102B1.BJJ-2019-0366.R3. PMID: 31888364
Pai RK, Jairath V, Vande Casteele N, Rieder F, Parker CE, Lauwers GY
Gastrointest Endosc 2018 Dec;88(6):887-898. Epub 2018 Aug 22 doi: 10.1016/j.gie.2018.08.018. PMID: 30142351
Khoury MH, Gornik HL
Vasc Med 2017 Jun;22(3):248-252. Epub 2017 Apr 3 doi: 10.1177/1358863X17700716. PMID: 28367730

Recent systematic reviews

Cerezo-Cayuelas M, Pérez-Silva A, Serna-Muñoz C, Vicente A, Martínez-Beneyto Y, Cabello-Malagón I, Ortiz-Ruiz AJ
Orphanet J Rare Dis 2022 Oct 17;17(1):376. doi: 10.1186/s13023-022-02533-0. PMID: 36253866Free PMC Article
Vered M, Wright JM
Head Neck Pathol 2022 Mar;16(1):63-75. Epub 2022 Mar 21 doi: 10.1007/s12105-021-01404-7. PMID: 35312978Free PMC Article
Iocca O, Sollecito TP, Alawi F, Weinstein GS, Newman JG, De Virgilio A, Di Maio P, Spriano G, Pardiñas López S, Shanti RM
Head Neck 2020 Mar;42(3):539-555. Epub 2019 Dec 5 doi: 10.1002/hed.26006. PMID: 31803979
Norenhag J, Du J, Olovsson M, Verstraelen H, Engstrand L, Brusselaers N
BJOG 2020 Jan;127(2):171-180. Epub 2019 Jul 17 doi: 10.1111/1471-0528.15854. PMID: 31237400
Klingenberg C, Wheeler KI, McCallion N, Morley CJ, Davis PG
Cochrane Database Syst Rev 2017 Oct 17;10(10):CD003666. doi: 10.1002/14651858.CD003666.pub4. PMID: 29039883Free PMC Article

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