Bonnemann-Meinecke-Reich syndrome

Bonnemann-Meinecke-Reich syndrome is a rare condition that affects development from an early age. It is known as a syndrome of multiple congenital anomalies, with early onset encephalopathy that often appears during the first year of life. This can lead to delays in psychomotor development. Other features of this syndrome include moderate dysmorphia, craniosynostosis, and dwarfism related to growth hormone deficiency. Affected individuals may also experience intellectual disability, spasticity, ataxia, retinal degeneration, and underdevelopment of the adrenal glands and the uterus. The condition has been reported in only two families, each with two affected siblings, and it is suggested to follow an autosomal recessive pattern of inheritance. There have been no additional reports in the medical literature since 1991.

People with this condition may show signs of encephalopathy in infancy accompanied by psychomotor delays. They can also experience moderate facial dysmorphia, craniosynostosis (premature fusion of skull bones), and short stature due to growth hormone deficiency. In addition, intellectual disability, muscle stiffness (spasticity), coordination problems (ataxia), and vision problems from retinal degeneration have been described. Some reports also mention underdevelopment of the adrenal glands and uterus.

The condition appears to be inherited in an autosomal recessive pattern, meaning that a child may develop the syndrome if they inherit two copies of the altered gene, one from each parent. However, no specific gene mutations have been clearly identified. This information is based on the description of affected siblings in only two families.

Information about treatment is currently limited for this condition.

Information about prognosis is currently limited for this condition.

Information about research is currently limited for this condition. There have been no further descriptions in the literature since 1991, and more research is needed to fully understand this syndrome.