NDE1-related microhydranencephaly

NDE1-related microhydranencephaly is a rare, inherited syndrome that affects the brain. It is characterized by extremely small head size (microcephaly) and underdeveloped brain tissues. Brain imaging typically reveals large spaces (dilated ventricles) due to the absence or severe delay in the development of the cerebral hemispheres, along with underdevelopment (hypoplasia) of structures like the corpus callosum, cerebellum, and brainstem. People with this condition often have additional physical features such as thin bones and folds (rugae) on the scalp. Severe motor delay and intellectual disability are also noted, reflecting the central nervous system malformation that is at the core of this disorder.

Common symptoms of NDE1-related microhydranencephaly include extreme microcephaly, severe delay in motor skills, and intellectual disability. Radiological findings show gross dilation of the brain's ventricles, and there may be additional physical signs like thin bones and scalp rugae.

This condition is hereditary and is related to genetic changes in the NDE1 gene. The mutation affects brain development, leading to the severe central nervous system malformations seen in the syndrome.

Information about treatment is currently limited for this condition.

Information about prognosis is currently limited for this condition. The available details indicate severe neurological and developmental challenges, but specific long-term outcomes have not been fully described.

Information about research is currently limited for this condition. More studies are needed to fully understand the genetic and developmental aspects of NDE1-related microhydranencephaly.