Hartsfield syndrome (HRTFDS)

What is Hartsfield syndrome (HRTFDS)?

This rare disease is a genetic syndrome with two major, serious symptoms.

The first is holoprosencephaly, which is when the brain does not develop properly. The second is ectrodactyly, which affects the hands and feet.

There have been less than 20 cases reported of this rare syndrome to date, and most of these cases have been in males.

What gene changes cause Hartsfield syndrome (HRTFDS)?

Mutations in the FGFR1 gene are responsible for causing the syndrome. It has been found that the syndrome can be inherited generally in an autosomal dominant pattern. However there have been a few cases where it has been inherited in an autosomal recessive pattern.

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.

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 Hartsfield syndrome (HRTFDS)?

One of the main and most serious symptoms of the syndrome is holoprosencephaly. This affects the development of the brain. It occurs when the two hemispheres of the brain don’t divide properly. In the most severe cases the brain fails to divide at all, which in most cases will cause premature death. In less severe cases, the two hemispheres of the brain partially divide which in turn can lead to a number of related medical issues. These include a malfunctioning pituitary and diabetes insipidus.

The second main symptom is ectrodactyly, which is a deep slip through the hands and or feet. This then usually results in missing fingers and toes.

A cleft lip/palate completes the triad of the syndrome.

Seizures and developmental delay are also known symptoms of the syndrome.

How does someone get tested for Hartsfield syndrome (HRTFDS)?

The initial testing for Hartsfield syndrome (HRTFDS) 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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