Ayazi syndrome is a rare disease
This condition is an X-linked retinal dystrophy.
Ayazi syndrome is characterized by the below features.
- choroideremia, causing in affected males progressive nyctalopia and eventual central blindness.
- Obesity, moderate intellectual disability and
- congenital mixed (sensorineural and conductive) deafness are also observed.
- Female carriers show typical retinal changes indicative of the choroideremia carrier state.
- Choroideremia deafness obesity
- Congenital deafness
- Monosomy Xq21
- Xq21 microdeletion syndrome
<1 / 1000000
Age of onset:
Symptoms of Ayazi syndrome
- Chorioretinal abnormality
- Choroidal degeneration
- Sensorineural hearing impairment
- Abnormal cochlea morphology
- Abnormality of the Achilles tendon
- Ankle clonus
- Anterior hypopituitarism
- Bilateral sensorineural hearing impairment
- Conductive hearing impairment
- Delayed skeletal maturation
- Dilatated internal auditory canal
- Gait ataxia
- Global developmental delay
- Growth delay
- Growth hormone deficiency
- Intellectual disability, mild
- Optic atrophy
- Peripheral visual field loss
- Pituitary hypothyroidism
- Postnatal growth retardation
- Progressive night blindness
- Reduced visual acuity
- Reticular pigmentary degeneration
- Stapes ankylosis
- Visual acuity test abnormality
- Renal artery stenosis
- Upper limb muscle weakness