Proud syndrome

Proud syndrome
Other namesProud Levine Carpenter syndrome
SpecialtyMedical genetics
Symptomsintellectual disabilities, brain anomalies and seizures
Usual onsetBirth
DurationLifelong
TypesIt belongs to a group of disorders which are associated with the ARX gene
CausesGenetic mutation
Differential diagnosisIdiopathic intellectual disability
Preventionnone
PrognosisMedium
FrequencyVery rare, only 37 cases have been described in medical literature
Deaths-

Proud syndrome is a very rare genetic disorder which is characterized by severe intellectual disabilities, corpus callosum agenesis, epilepsy, and spasticity. It is a type of syndromic X-linked intellectual disability.