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

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

Infantile-onset 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.

This syndrome is also known as:
Infantile onset neurology-endocrine-pancreatic disease; IMNEPD

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

Changes in the PTRH2 and YARS1 genes are responsible for the two types of this syndrome. Both types are 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 emotional, and communication.
Other symptoms of the syndrome include a small head, and ataxia (a degenerative condition of the nervous system caused by damage to the cerebellum) which causes symptoms such as slurred speech, stumbling, falling, and a lack of coordination. Other conditions include hearing loss, exocrine pancreatic insufficiency, low muscle tone, and growth delay.

Possible clinical traits/features:
Hypertelorism, Hepatomegaly, Hepatic fibrosis, Short stature, Global developmental delay, Hypothyroidism, Cerebellar atrophy, Brachycephaly, Ataxia, Pancreatic fibrosis, Sensorineural hearing impairment, Shawl scrotum, Steatorrhea, Talipes equinovarus, Microcephaly, Thin upper lip vermilion, Midface retrusion, Proximal placement of thumb, Muscular hypotonia, Intellectual disability, Hip dislocation, Distal muscle weakness, Failure to thrive, Exotropia.

How is it diagnosed?

To find out if someone has a diagnosis of Neurologic, Endocrine, and Pancreatic Disease, Multisystem, Infantile-Onset, it is important to have a consultation and evaluation with a clinical genetic specialist.  Specialists may also suggest specific genetic testing or other types of tests to help reach a diagnosis.  FDNA’s AI technology can help speed up the diagnostic process by analyzing facial features and other health information.

More syndromes

Syndromes & Disorders

Weiss-Kruszka syndrome (WSKA)

It is a multiple congenital anomaly syndrome that has been recently identified. There are just 24 potential cases currently reported worldwide. It is also known as Weiss-Kruska syndrome. The gene responsible for the disorder is the ZNF462 gene.

Read more
Syndromes & Disorders

Yunis-Varon syndrome (YVS)

It is a rare genetic disease that affects multiple systems of the body. Its main symptoms affect the skeletal and nervous systems, as well as ectodermal tissue (hair and teeth). Since 1980 just 25 cases from 19 families have been diagnosed and recorded. This syndrome is also known as: Cleidocranial Dysplasia With Micrognathia, Absent Thumbs, And Distal Aphalangia

Read more
Syndromes & Disorders

Xia-Gibbs syndrome (XIGIS)

It is a rare genetic syndrome associated mainly with intellectual disability. This syndrome is also known as: Mental Retardation, Autosomal Dominant 25; Mrd25 Changes in the AHDC1 gene are responsible for causing the syndrome. It is inherited in an autosomal dominant pattern, although all cases of the syndrome recorded so far have been the result of de novo or new mutations in the gene. 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 which occurs during the reproductive process.

Read more