Ayazi syndrome

Ayazi syndrome

Synonyms

  • Choroideremia deafness obesity
  • Choroideremia
  • Obesity
  • Congenital deafness
  • Del(X)(q21)
  • Monosomy Xq21
  • Xq21 microdeletion syndrome

Prevalence

<1 / 1000000

Inheritance: 

X-linked recessive 

Age of onset: 

Neonatal, Infancy

Symptoms of Ayazi syndrome

Very frequent

  • Chorioretinal abnormality
  • Choroidal degeneration 
  • Choroideremia 
  • Sensorineural hearing impairment 

Frequent

  • Abnormal cochlea morphology 
  • Abnormality of the Achilles tendon 
  • Ankle clonus 
  • Anterior hypopituitarism 
  • Ataxia 
  • Bilateral sensorineural hearing impairment 
  • Conductive hearing impairment 
  • Delayed skeletal maturation 
  • Dilatated internal auditory canal 
  • Gait ataxia 
  • Global developmental delay 
  • Growth delay 
  • Growth hormone deficiency 
  • Hyperreflexia
  • Intellectual disability, mild 
  • Obesity 
  • 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 

Occasional

  • Dysdiadochokinesis 
  • Hypertension
  • Nystagmus 
  • Renal artery stenosis
  • Seizures 
  • Strabismus 
  • Upper limb muscle weakness

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