|Specialty 22||Medical genetics|
Odontoonychodermal dysplasia is a rare genetic disorder which is characterized by systemic abnormalities of the teeth, the nails of the fingers and toes, the skin, the hair cells, and the sweat glands. It is a type of syndromic ectodermal dysplasia.
Signs and symptoms
Individuals with this condition typically have the following symptoms: complete absence of both the deciduous and permanent teeth, cone-shaped canines and incisors, generalized dysplasia of the nails, palmoplantar hyperkeratosis, chronic skin dryness, and variable degrees of both hypotrichosis and either hyperhidrosis or hypohidrosis.
The oligodontia associated with this condition results in both functional/mechanical and cosmetic problems.
Hyperhidrosis can increase one's susceptibility to infections and might cause problems with oneself's self esteem.
This condition is caused by homozygous mutations of the WNT10A gene, located in the second chromosome. These mutations are inherited in an autosomal recessive manner, which means that for a child to be born with the condition, they must inherit two copies of a mutation from both parents.
This condition can be diagnosed through symptomatic examination and genetic testing.
Treatment is focused on the symptoms
This condition was first discovered in 1983 by Fadhil et al. when they described 3 incestuous Muslim Shiite sibships from a family in Lebanon. Of the 24 children produced in these sibships, 7 were affected with what they (the researchers) a thought to be a novel ectodermal dysplasia syndrome, said children had nail dystrophy, peg-shaped incisors, erythematous facial lesions, hyperhidrotic palms and soles with thickened skin, dry sparse hair, and eyebrow thinning.
In 2007, Adaimy et al. found the molecular cause for this condition in affected members of 3 consanguineous Muslim Shiite families in Lebanon: they found a homozygous mutation in the WNT10A gene that was shared by all of the affected family members, said mutation resulted in a short, prematurely terminated protein of 232 amino acids instead of the usual amount of 417. Of the three families, two had been previously described in medical literature.
- ^ "Odontoonychodermal dysplasia - About the Disease - Genetic and Rare Diseases Information Center". rarediseases.info.nih.gov. Retrieved 2022-08-17.
- ^ RESERVED, INSERM US14-- ALL RIGHTS. "Orphanet: Odonto onycho dermal dysplasia". www.orpha.net. Retrieved 2022-08-17.
- ^ Nubulus, Erik (2022-05-31). "What are the consequences of missing teeth for your health?". Clinic Dr. Vilar. Retrieved 2022-08-17.
- ^ "Hyperhidrosis - Symptoms and causes". Mayo Clinic. Retrieved 2022-08-17.
- ^ "What Is Hypohidrosis?". WebMD. Retrieved 2022-08-17.
- ^ "Entry - *606268 - WINGLESS-TYPE MMTV INTEGRATION SITE FAMILY, MEMBER 10A; WNT10A - OMIM". omim.org. Retrieved 2022-08-17.
- ^ "odontoonychodermal dysplasia Archives - NFED". National Foundation for Ectodermal Dysplasias. Retrieved 2022-08-17.
- ^ "Entry - #257980 - ODONTOONYCHODERMAL DYSPLASIA; OODD - OMIM". omim.org. Retrieved 2022-08-17.
- ^ Fadhil, M.; Ghabra, T. A.; Deeb, M.; Der Kaloustian, V. M. (February 1983). "Odontoonychodermal dysplasia: a previously apparently undescribed ectodermal dysplasia". American Journal of Medical Genetics. 14 (2): 335–346. doi:10.1002/ajmg.1320140213. ISSN 0148-7299. PMID 6837628.
- ^ Adaimy, Lynn; Chouery, Eliane; Megarbane, Hala; Mroueh, Salman; Delague, Valerie; Nicolas, Elsa; Belguith, Hanen; de Mazancourt, Philippe; Megarbane, Andre (October 2007). "Mutation in WNT10A is associated with an autosomal recessive ectodermal dysplasia: the odonto-onycho-dermal dysplasia". American Journal of Human Genetics. 81 (4): 821–828. doi:10.1086/520064. ISSN 0002-9297. PMC 1973944. PMID 17847007.