White matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome

A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by severe white matter hypoplasia, corpus callosum agenesis or extreme hypoplasia, severe intellectual disability, failure to thrive and minor midline facial dysmorphism (including hypertelorism, broad nasal root, micrognathia). There have been no further descriptions in the literature since 1993.

Adducted thumb

In the resting position, the tip of the thumb is on, or near, the palm, close to the base of the fourth or fifth finger.


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