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M-CMTC syndrome
Inheritance patterns and prenatal diagnosis
Inheritance patterns
To
date, about 80 individuals with M-CMTC syndrome have been reported
worldwide, although the condition is being recognised more frequently
and is probably relatively common. Those individuals with milder
features are probably underreported. M-CMTC is sporadic, and usually
affects only one member of a family. The cause of the condition is so
far unknown.
Prenatal diagnosis
No
specific tests available. Ultrasound scan abnormalities including
increased amniotic fluid, large head size and signs of increased fluid
around the baby have been observed in some affected pregnancies.
What are the symptoms?
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