Neurologic, Endocrine, and Pancreatic Disease, Multisystem, Infantile-Onset

What is Neurologic, Endocrine, and Pancreatic Disease, Multisystem, Infantile-Onset?

It is a rare genetic syndrome that presents with multiple congenital anomalies. This means many of the features of the syndrome are present from birth. The syndrome also presents with intellectual disability.

What gene changes cause Neurologic, Endocrine, and Pancreatic Disease, Multisystem, Infantile-Onset?

Changes in the PTRH2 gene are responsible for the syndrome. It is inherited in an autosomal recessive pattern of inheritance.

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 Neurologic, Endocrine, and Pancreatic Disease, Multisystem, Infantile-Onset?

The main syndromes include intellectual disability as well as global developmental delay. Individuals with the syndrome show delayed development in all areas of their growth- physical, social and emotional, and communication.
Other symptoms with the syndrome include a small head, ataxia (a degenerative condition of the nervous system caused by damage to the cerebellum) which causes symptoms such slurred speech, stumbling, falling and a lack of coordination. Other conditions include hearing loss, exocrine pancreatic insufficiency, low muscle tone and growth delay.

How does someone get tested for Neurologic, Endocrine, and Pancreatic Disease, Multisystem, Infantile-Onset?

The initial testing for Neurologic, Endocrine, and Pancreatic Disease, Multisystem, Infantile-Onset 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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FDNA Telehealth is a leading digital health company that provides faster access to accurate genetic analysis.

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