obsolete_Bonnemann-Meinecke-Reich syndrome true Replaced with Mondo term. orphanet 3.41.0 ICD10:Q04.8 Encephalopathy - intracerebral calcification - retinal degeneration http://purl.obolibrary.org/obo/MONDO_0009167 OMIM:225755 Bonnemann-Meinecke-Reich syndrome is a multiple congenital anomalies syndrome characterized by an encephalopathy which predominantly occurs in the first year of life and presenting as psychomotor delay. Additional features of the disease include moderate dysmorphia, craniosynostosis, dwarfism (due to growth hormone deficiency), an intellectual disability, spasticity, ataxia, retinal degeneration, and adrenal and uterine hypoplasia. The disease has been described in only two families, with each family containing two affected sibs. An autosomal recessive inheritance has been suggested. There have been no further descriptions in the literature since 1991.