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Neuroectodermal-endocrine syndrome

Orpha number ORPHA2676
Prevalence of rare diseases <1 / 1 000 000
Inheritance
  • Unknown
Age of onset Neonatal/infancy
ICD 10 code -
MIM number -
Synonym(s) Oerter-Friedman-Anderson syndrome

Summary

This syndrome is characterised by a combination of endocrine and neuroectodermal abnormalities, including low growth hormone levels, delayed puberty, type II diabetes mellitus, mild intellectual deficit, sensorineural deafness, characteristic facial appearance and alopecia. It has been described in four sibs from Myanmar. *Author: Orphanet (November 2006)*.

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