Infantile multisystem neurologic-endocrine-pancreatic disease

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Infantile multisystem neurologic-endocrine-pancreatic disease

Synonyms: IMNEPD

A rare multiple congenital anomalies/dysmorphic syndrome with intellectual disability characterized by global developmental delay postnatal microcephaly intellectual disability ataxia sensorineural hearing loss and exocrine pancreatic insufficiency. More variable manifestations include hypotonia growth retardation peripheral demyelinating neuropathy dysmorphic facial features and additional endocrine abnormalities. Brain imaging may show progressive cerebellar atrophy in some patients.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: // Data version September 2023.

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Advocacy Organizations

Hereditary Neuropathy Foundation

Hereditary Neuropathy Foundation (HNF) is a non-profit 501(c)3 organization which mission is to increase awareness and accurate diagnosis of Charcot-Marie-Tooth (CMT) and related inherited neuropathies, support patients and families with critical information to improve quality of life, and fund research that will lead to treatments and cures.

Clinical Trials

For a list of clinical trials in this disease area, please click here.