Bonnemann-Meinecke-Reich syndrome

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Bonnemann-Meinecke-Reich syndrome

Synonyms: Encephalopathy-intracerebral calcification-retinal degeneration syndrome

Bonnemann-Meinecke-Reich syndrome is a syndrome of multiple congenital anomalies 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) intellectual disability spasticity ataxia retinal degeneration and adrenal and uterine hypoplasia. The disease has been described in only two families with each family having two affected siblings. An autosomal recessive inheritance has been suggested. There have been no further descriptions in the literature since 1991.

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 Data version May 2024

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