W8MD Diet | COVID-19 portal | Vitamin D | Vaccine | Keto

WikiMD is the world's largest medical encyclopedia with
15,664 pages, 4,131,659 edits & 37,629,462 views.

Free unbiased diet, health and wellness info!

Cone-rod dystrophy amelogenesis imperfecta

From WikiMD's free health, diet & wellness encyclopedia
Jump to navigation Jump to search

Alternate names

Jalili syndrome; Cone-rod dystrophy with amelogenesis imperfecta


Jalili syndrome is characterized by the association of amelogenesis imperfecta and cone-rod retinal dystrophy .


It has been described in only one family with 29 affected individuals.


Mutations in the CNNM4 gene (2q11.2), which is implicated in metal ion transport, have been identified in several families.


Autosomal recessive inheritance, a 25% chance

Jalili syndrome is transmitted in an autosomal recessive manner.

Signs and symptoms

AI is a generic term for an inherited group of dental diseases in which the common clinical feature is an abnormality of tooth enamel. The enamel may be thin but normal, and/or hypomineralized. CORD is a rare retinal disorder that leads to an initial loss of central vision, color vision and photophobia before the age of 10 years with subsequent night blindness and visual field restriction.

For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. 80%-99% of people have these symptoms

  • Abnormality of dental color(Abnormality of tooth color)
  • Abnormality of retinal pigmentation
  • Amelogenesis imperfecta
  • Color vision defect(Abnormal color vision)
  • Nystagmus(Involuntary, rapid, rhythmic eye movements)
  • Photophobia(Extreme sensitivity of the eyes to light)
  • Visual impairment(Impaired vision)

30%-79% of people have these symptoms



NIH genetic and rare disease info

Cone-rod dystrophy amelogenesis imperfecta is a rare disease.

Latest research - Cone-rod dystrophy amelogenesis imperfecta

Clinical trials


Cone-rod dystrophy amelogenesis imperfecta is part of WikiMD's free ^articles!

^Cone-rod dystrophy amelogenesis imperfecta (article) is provided for informational purposes only. No expressed or implied warranties as to the validity of content.
WikiMD is not a substitute for professional advice. By accessing and using WikiMD you agree to the terms of use.
Templates etc. when imported from Wikipedia, are licensed under CC BY-SA 3.0. See full disclaimers.
W8MD weight loss logo

Ad. Tired of being overweight?. W8MD's physician weight loss program can HELP. Tele medicine available