Proud syndrome | |
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Other names | Proud Levine Carpenter syndrome |
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Specialty | Medical genetics |
Symptoms | intellectual disabilities, brain anomalies and seizures |
Usual onset | Birth |
Duration | Lifelong |
Types | It belongs to a group of disorders which are associated with the ARX gene |
Causes | Genetic mutation |
Differential diagnosis | Idiopathic intellectual disability |
Prevention | none |
Prognosis | Medium |
Frequency | Very 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.
The following list comprises the symptoms this disorder causes:[1][2]
Symptoms list consists of combined information from GARD and OrphaNet, people with the disorder may not always have all the symptoms.
This condition is caused by X-linked recessive mutations in the ARX gene, in chromosome Xp21.3. Affected males often have symptoms which are more severe than the rare affected females.[3] This gene is thought to be important in interneuronal migration, neuronal proliferation and embryonic brain and testes differentiation.[4]
According to OMIM,[5] only 37 cases have been described in medical literature.[6][7][8][9]