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.
The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. If available, the list includes a rough estimate of how common a feature is (its frequency). Frequencies are based on a specific study and may not be representative of all studies. You can use the MedlinePlus Medical Dictionary for definitions of the terms below.
|Signs and Symptoms||Approximate number of patients (when available)|
|Cerebral cortical atrophy||90%|
|Posteriorly rotated ears||90%|
|Abnormality of the cardiovascular system||50%|
|Aplasia/Hypoplasia of the corpus callosum||7.5%|
|Clinodactyly of the 5th finger||7.5%|
|Thick upper lip vermilion||25/25|
|Wide nasal bridge||24/25|
|Cavum septum pellucidum||17/22|
|Hypoplasia of the corpus callosum||17/23|
|Deep palmar crease||14/21|
|Midline brain calcifications||13/24|
|Clinodactyly of the 5th finger||10/24|
|Intrauterine growth retardation||8/22|
|Abnormality of cardiovascular system morphology||6/27|
|Joint contracture of the hand||6/27|
|Single transverse palmar crease||5/24|
|Abnormality of metabolism/homeostasis||-|
|Autosomal dominant inheritance||-|
|Contiguous gene syndrome||-|
|Decreased fetal movement||-|
|Delayed eruption of teeth||-|
|Failure to thrive||-|
|Infantile muscular hypotonia||-|
|Progressive spastic paraplegia||-|
|Recurrent aspiration pneumonia||-|
|Upslanted palpebral fissure||-|
The resources below provide information about treatment options for this condition. If you have questions about which treatment is right for you, talk to your healthcare professional.
Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.
These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.
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I am 29 weeks pregnant with my daughter and she was diagnosed with Miller-Dieker syndrome and chromosome 4q duplication through amniocentesis. Have you ever seen these two syndromes together? If so, what was the outcome? How severe was the child's condition? See answer
My baby has Miller-Dieker syndrome and I would like to know how long he might live. See answer