/Bonnemann-Meinecke-Reich syndrome

Bonnemann-Meinecke-Reich syndrome

Rare Disease

MONDO:0009167

Also Known As

encephalopathy-intracerebral calcification-retinal degeneration syndromeBonnemann Meinecke Reich syndromeencephalopathy intracranial calcification growth hormone deficiency microcephaly retinal degenerationencephalopathy with intracranial calcification, growth hormone deficiency, microcephaly, and retinal degeneration

Definition

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.