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Don’t fight Miller-Dieker syndrome alone.
Find your community on the free RareGuru App.Miller-Dieker syndrome (MDS) is a genetic condition characterized by a specific brain malformation (lissencephaly); distinctive facial features; and severe neurologic abnormalities including intellectual disability and seizures. Very few affected children survive beyond childhood. MDS is caused by a deletion (missing piece) of genetic material on the short arm of chromosome 17 (17p). Most cases are not inherited and occur randomly. In some cases, it is caused by inheriting a chromosome rearrangement (balanced translocation) from an unaffected parent. Treatment is based on the symptoms in each person and aims to prevent complications and control seizures.
Source: GARD Last updated on 05-01-20
Miller-Dieker syndrome (MDS) is primarily associated with a type of abnormal brain development called lissencephaly (causing various neurological problems) and distinctive facial features. Additional birth defects may also be present. Sign and symptoms may include:
Generally, the more severe the brain abnormality is, the more severe the symptoms are.
Distinctive facial features may include:
Additional abnormalities that have been reported in some affected people include heart or kidney defects; an opening in the abdominal wall (omphalocele); contractures; and/or clinodactyly (curved finger).
Most people with MDS do not survive beyond childhood.
Last updated on 05-01-20
Many children with Miller-Dieker syndrome (MDS) do not live past age 2, and only a few may reach age 10. According to GeneReviews , as of 2014, the oldest known individual with MDS died at age 17 years. In general, life expectancy is related to the severity of the lissencephaly. The most common cause of death is aspiration pneumonia, caused by poor control of the airways.
The developmental outlook is poor for all children with MDS, but varies slightly based on the degree of the brain malformation. The highest developmental level in affected children is the equivalent of about 3 to 5 months of age, even with good seizure control. Very rarely, a child may be able to sit without help. Children with poor seizure control may function only at or below the level of a newborn.
Last updated on 05-01-20
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