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 mutation to 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.
