Ameloonychohypohidrotic syndrome

What is Ameloonychohypohidrotic syndrome?

Ameloonychohypohidrotic syndrome is a rare disease. It is also known as Amelo-onycho-hypohidrotic syndrome.

Ten affected individuals from three generations of a family were described by Witkop et al., (1975). They had enamel defects of both dentitions consisting of hypocalcification and hypoplasia. The colour of the enamel ranged from opaque white to dark yellow/brown with black areas on older teeth. Radiographs showed multiple unerupted teeth with resorption. The skin was dry with keratosis pilaris over the extensor surfaces and buttocks. There was seborrheic dermatitis of the scalp with normal hair. The nails showed onycholysis of the distal portions with subungual hyperkeratosis.

* This information is courtesy of the L M D.

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What gene changes cause Ameloonychohypohidrotic syndrome?

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.

OMIM Number - 104570 (please check the OMIM page for updated information)

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

What are the main symptoms of Ameloonychohypohidrotic syndrome?

The typical symptoms of the syndrome are:
Seborrheic dermatitis, Onycholysis, Autosomal dominant inheritance, Advanced eruption of teeth, Abnormal fingernail morphology, Abnormal hair morphology, Marked delay in eruption of permanent teeth, Abnormality of dental morphology, Abnormality of dental enamel, Abnormality of dental color, Reduced number of teeth, Hyperkeratosis, Hypohidrosis, Hypoplastic toenails, Delayed eruption of teeth, Everted lower lip vermilion, Dry skin, Fine hair

How does someone get tested for Ameloonychohypohidrotic syndrome?

The initial testing for Ameloonychohypohidrotic syndrome 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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