Proud syndrome
Medical condition
From Wikipedia, the free encyclopedia
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.
| Proud syndrome | |
|---|---|
| Other names | Proud Levine Carpenter syndrome |
 | |
| 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 | - |
Signs and symptoms
The following list comprises the symptoms this disorder causes:[1][2]
- Corpus callosum agenesis
- Severe intellectual disabilities: IQ between 20 and 34
- Microcephaly
- Epilepsy
- Severe developmental delays
- Short stature
- Spasticity
- Dystonia
- Limb contractures
- Hypospadias
- Cryptorchidism
- Renal dysplasia
- Intersex genitalia
- Scoliosis
- Supraorbital ridge prominence
- Unibrows
- Large eyes
- Hirsutism
- Nystagmus
- Large ears
- Strabismus
- Optic atrophy
- Inguinal hernia
Symptoms list consists of combined information from GARD and OrphaNet, people with the disorder may not always have all the symptoms.
Causes
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]