Deafness, Onychodystrophy, Osteodystrophy, Mental Retardation and seizures syndrome (DOORS)

What is Deafness, Onychodystrophy, Osteodystrophy, Mental Retardation and seizures syndrome (DOORS)?

This rare disease is a congenital genetic condition that presents with a variety of different symptoms affecting multiple parts of the body.

There are just 50 cases diagnosed worldwide, to date.

The main features of the syndrome include intellectual disability, hearing impairment, and digit anomalies.

What gene changes cause Deafness, Onychodystrophy, Osteodystrophy, Mental Retardation and seizures syndrome (DOORS)?

Mutations in the TBC1D24 gene are responsible for the syndrome. The syndrome is inherited in an autosomal recessive pattern.

Autosomal recessive inheritance means an affected individual receives one copy of a mutated gene from each of their parents, giving them two copies of a mutated gene. Parents, who carry only one copy of the gene mutation will not generally show any symptoms, but have a 25% chance of passing the copies of the gene mutations onto each of their children.

What are the main symptoms of Deafness, Onychodystrophy, Osteodystrophy, Mental Retardation and seizures syndrome (DOORS)?

The symptoms are mainly congenital and most are present at birth.

The main symptoms of the syndrome include deafness (related to the inner ears), short or absent nails, short fingers and toes as well as intellectual disability and developmental delay.

Seizures are a common symptom of the syndrome and they may take the form of different types of seizures that vary in intensity and severity.

Physical and facial features of the syndrome include a very small head, a wide and fat nose, narrow and high arched palate, and possible dental abnormalities.

Many individuals with the syndrome also have an extra bone and joint in the thumb.

Individuals may also experience heart and urinary tract issues. Low levels of the thyroid hormone may also be a symptom.

How does someone get tested for Deafness, Onychodystrophy, Osteodystrophy, Mental Retardation and seizures syndrome (DOORS)?

The initial testing for Deafness, Onychodystrophy, Osteodystrophy, Mental Retardation and seizures syndrome (DOORS) can begin with facial analysis screening, through the FDNA Telehealth telegenetics platform, which can identify the key markers of the syndrome and outline the need for further testing. 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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