Microcornea-myopic chorioretinal atrophy-telecanthus syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: MMCAT
MMCAT syndrome
Number of Symptoms 10
OrphanetNr: 369970
OMIM Id: 615458
ICD-10: Q15.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: Developmental defect of the eye
 -Rare developmental defect during embryogenesis
 -Rare eye disease
 -Rare genetic disease
Genetic developmental defect of the eye
 -Rare eye disease
 -Rare genetic disease
Retinal dystrophy
 -Rare eye disease
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000455) Broad nasal tip 67 / 7739
2
 (HPO:0000506) Telecanthus 156 / 7739
3
 (HPO:0000445) Wide nose 190 / 7739
4
 (HPO:0000482) Microcornea 102 / 7739
5
 (HPO:0007787) Posterior subcapsular cataract rare [HPO:skoehler] 20 / 7739
6
 (HPO:0000358) Posteriorly rotated ears 163 / 7739
7
 (OMIM) Fine punctate lens opacities (in some patients) 1 / 7739
8
 (OMIM) Mild depression and delay in both scotopic and photopic function on electroretinography 1 / 7739
9
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
10
 (OMIM) Myopic chorioretinal degeneration 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Khan (2012) described 5 boys, ranging in age from 4 to 10 years at presentation, from 4 unrelated consanguineous Saudi Arabian families with microcornea and myopic chorioretinal atrophy. In addition to ocular findings, all 5 boys had telecanthus ...
Molecular genetics OMIM In a boy with microcornea and myopic chorioretinal atrophy from the father-son pedigree previously described by Khan (2012), Aldahmesh et al. (2013) performed exome sequencing and filtering and identified homozygosity for a missense mutation in the ADAMTS18 gene ...