Bonnemann-Meinecke-Reich syndrome

Orpha code: 1261OMIM code: 225755

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.

Disease data
Classification

Malformation syndrome

Synonyms
Encephalopathy-intracerebral calcification-retinal degeneration syndrome
Encefalopatia - zwapnienia wewnątrzczaszkowe - degeneracja siatkówki
ORPHA code
1261
OMIM code
225755
ICD10 code
Q04.8
ICD11 code
-

No additional description.

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