X-linked corneal dermoid
General Information (adopted from Orphanet):
| Synonyms, Signs: |
CND Guízar-Vázquez - Luengas-Muñoz syndrome Corneal dystrophy epithelial - short stature |
| Number of Symptoms | 7 |
| OrphanetNr: | 1661 |
| OMIM Id: |
304730
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| ICD-10: |
Q13.4 |
| UMLs: |
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| MeSH: |
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| MedDRA: |
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| Snomed: |
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Prevalence, inheritance and age of onset:
| Prevalence: | No data available. |
| Inheritance: |
Autosomal recessive inheritance X-linked recessive inheritance [Omim] |
| Age of onset: |
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Disease classification (adopted from Orphanet):
| Parent Diseases: |
Syndromic corneal dystrophy
-Rare eye disease -Rare genetic disease |
Symptom Information:
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(HPO:0000572) | Visual loss | Very frequent [Orphanet] | 272 / 7739 | |||
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(HPO:0000481) | Abnormality of the cornea | Very frequent [Orphanet] | 124 / 7739 | |||
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(HPO:0000615) | Abnormality of the pupil | Frequent [Orphanet] | 39 / 7739 | |||
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(HPO:0000478) | Abnormality of the eye | 126 / 7739 | ||||
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(OMIM) | Corneal dermoid | 1 / 7739 | ||||
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(OMIM) | Congenital opaque corneas | 1 / 7739 | ||||
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(HPO:0001417) | X-linked inheritance | 173 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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Additional Information:
| Clinical Description OMIM |
Henkind et al. (1973) described 2 male cousins of Puerto Rican extraction who were born with bilateral opaque corneas with no other ocular or systemic abnormality. Their mothers were sisters. The unaffected sister of one of the affected ... |