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.
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 hyperhidrosisorhypohidrosis.[1][2]
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.[6]
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.[9]
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.[10]
