Ackerman - pyramidal and fused molar roots

What is Ackerman - pyramidal and fused molar roots?

Ackerman - pyramidal and fused molar roots is a rare disease.
There are currently no additional known synonyms for this rare genetic disease.

This condition will, in all likelihood, only be diagnosed after a dental X-ray as clinically the teeth look normal. Some of those who are affected have an unusual upper lip characterised by an absence of the cupid's bow and by a thickening and widening of the philtrum. Entropion is present from birth and might need surgical correction. Skin syndactyly involving fingers 3 and 4, often unilaterally, might occur. It was also noted (Ackerman et al., 1973) that the knuckle pads were indurated and hyperpigmented. A juvenile onset glaucoma developed. In the teeth, the maxillary and mandibular molar roots were single and conical with a single root canal. Other features included a pyramidal configuration of the molar roots, taurodontia, and fusion of the roots. Body hair was scanty and the nails were horizontally ridged. Jaspers and Witkop (1980) provide a good review of taurodontism and associated syndromes.

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* This information is courtesy of the L M D.

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What gene changes cause Ackerman - pyramidal and fused molar roots?

The syndrome is inherited in the following inheritance pattern/s:

Autosomal Dominant - In the case of autosomal dominant inheritance, just one parent is the carrier of the gene mutation, and they have a 50% chance of passing it onto each of their children. Syndromes inherited in an autosomal dominant inheritance are caused by just one copy of the gene mutation.

In some cases, a genetic syndrome may be the result of a de-novo mutation and the first case in a family. In this case, this is a new gene mutation that occurs during the reproductive process.

The syndrome can be caused by mutations in the following gene/s location/s:

What are the main symptoms of Ackerman - pyramidal and fused molar roots?

The typical symptoms of the syndrome are:

How does someone get tested for Ackerman - pyramidal and fused molar roots?

The initial testing for Ackerman - pyramidal and fused molar roots can begin with facial genetic analysis screening, through the FDNA Telehealth telegenetics platform, which can identify the key markers of the syndrome and outline the type of genetic testing needed. A consultation with a genetic counselor and then a geneticist will follow.

Based on this clinical consultation with a geneticist, the different options for genetic testing will be shared and consent will be sought for further testing.

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