Proud syndrome

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.

Signs and symptoms

The following list comprises the symptoms this disorder causes:

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. This gene is thought to be important in interneuronal migration, neuronal proliferation and embryonic brain and testes differentiation.

Epidemiology

According to OMIM, only 37 cases have been described in medical literature.