EDICT syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: KERATOCONUS, FAMILIAL, WITH EARLY-ONSET ANTERIOR POLAR CATARACT
ENDOTHELIAL DYSTROPHY, IRIS HYPOPLASIA, CONGENITAL CATARACT, AND STROMAL THINNING SYNDROME
KERATOCONUS WITH CATARACT
KTCNCT
EDICT
Endothelial dystrophy-iris hypoplasia-congenital cataract-stromal thinning syndrome
Autosomal dominant keratoconus with early-onset anterior polar cataracts
Familial keratoconus with cataract
Number of Symptoms 15
OrphanetNr: 293936
OMIM Id: 614303
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant
[Orphanet]
Age of onset: No data available
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Syndromic keratoconus
 -Rare eye disease
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000483) Astigmatism 67 / 7739
2
 (HPO:0007676) Hypoplasia of the iris 22 / 7739
3
 (HPO:0000482) Microcornea 102 / 7739
4
 (HPO:0007759) Opacification of the corneal stroma 77 / 7739
5
 (HPO:0007663) Reduced visual acuity 100 / 7739
6
 (HPO:0000505) Visual impairment 297 / 7739
7
 (HPO:0007957) Corneal opacity 84 / 7739
8
 (HPO:0001131) Corneal dystrophy 56 / 7739
9
 (OMIM) Keratoconus, severe anterior (in some patients) 1 / 7739
10
 (OMIM) Small pupil 4 / 7739
11
 (OMIM) Cataract, anterior polar, congenital or early-onset (in some patients) 1 / 7739
12
 (OMIM) Iris stromal atrophy 2 / 7739
13
 (OMIM) Corneal thinning and steepening 1 / 7739
14
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
15
 (OMIM) Slightly eccentric pupils (in some patients) 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) EDICT syndrome is an autosomal dominant syndromal anterior segment dysgenesis characterized by endothelial dystrophy, iris hypoplasia, congenital cataract, and thinning of the corneal stroma (Iliff et al., 2012).

Syndromes with overlapping features have been reported, including ...
Clinical Description OMIM Akpek et al. (2002) reported an 81-year-old man with bilateral aphakia, diffuse corneal haze, and corneal thinning associated with guttae. Both pupils were miotic and slightly eccentric with focal areas of iris stromal atrophy. There was a 'beaten-metal' ...
Molecular genetics OMIM In a 3-generation Northern Irish family in which 18 of 38 individuals had an autosomal dominant form of severe anterior keratoconus and early-onset anterior polar cataract, originally reported by Hughes et al. (2003), Hughes et al. (2011) identified ...