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Disease Profile
Miller-Dieker syndrome
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
Unknown
Age of onset
Infancy
ICD-10
Q04.3
Inheritance
Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.
Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.
X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.
Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.
Not applicable
Other names (AKA)
Miller-Dieker lissencephaly syndrome; MDLS
Categories
Congenital and Genetic Diseases; Nervous System Diseases
Summary
Miller-Dieker
Symptoms
- severe mental and physical developmental delays (most children do not learn to sit or walk)
intellectual disability - feeding and swallowing difficulties
- low muscle tone (
hypotonia ) seizures (beginning before 6 months of age)microcephaly (smaller than normal head size)- slow growth
Generally, the more severe the brain abnormality is, the more severe the symptoms are.
Distinctive facial features may include:
- a prominent forehead
- a sunken appearance of the middle part of the face (midface hypoplasia)
- a small, upturned nose
- low-set and abnormally shaped ears
- a small jaw (
micrognathia ) - a thick upper lip
Additional abnormalities that have been reported in some affected people include heart or kidney defects; an opening in the abdominal wall (omphalocele);
Most people with MDS do not survive beyond childhood.[4]
This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.