Cone-rod dystrophy amelogenesis imperfecta
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Description
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
Orpha Number: 1873
Definition
Jalili syndrome is characterized by the association of amelogenesis imperfecta (AI; see this term) and cone-rod retinal dystrophy (CORD; see this term).
Epidemiology
It has been described in only one family with 29 affected individuals.
Clinical description
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.
Etiology
Mutations in the CNNM4 gene (2q11.2), which is implicated in metal ion transport, have been identified in several families.
Genetic counseling
Jalili syndrome is transmitted in an autosomal recessive manner.
Visit the Orphanet disease page for more resources.
Source: GARD Last updated on 05-01-20
Symptoms
Symptoms and their Known Frequencies
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