Isolated cryptophthalmia
General Information (adopted from Orphanet):
| Synonyms, Signs: |
CRYPTOPHTHALMOS WITH MICROPHTHALMIA AND PETERS ANOMALY ANKYLOBLEPHARON, SIMPLE |
| Number of Symptoms | 8 |
| OrphanetNr: | 91396 |
| OMIM Id: |
123570
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| ICD-10: |
Q11.2 |
| 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 dominant [Orphanet] |
| Age of onset: |
Neonatal Infancy [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Cryptophthalmia
-Rare eye disease -Rare genetic disease Nonsyndromic developmental defect of the eye -Rare developmental defect during embryogenesis -Rare eye disease -Rare genetic disease |
Symptom Information:
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(HPO:0009755) | Ankyloblepharon | 10 / 7739 | ||||
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(HPO:0000568) | Microphthalmia | 183 / 7739 | ||||
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(HPO:0001126) | Cryptophthalmos | 3 / 7739 | ||||
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(HPO:0000501) | Glaucoma | 180 / 7739 | ||||
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(OMIM) | Upper and lower eyelid fusion with midline dimple | 1 / 7739 | ||||
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(OMIM) | Isolated cryptophthalmos | 1 / 7739 | ||||
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(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 | ||||
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(OMIM) | Lens adherent to cornea | 1 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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Additional Information:
| Description: (OMIM) |
Cryptophthalmos is a condition of eyelid malformation with an underlying malformed eye. Complete, incomplete, and symblepharon varieties exist. The skin in complete cryptophthalmos extends uninterrupted from the forehead to the cheek. In the incomplete form, there is medial ... |
| Clinical Description OMIM |
Thomas et al. (1986) reviewed syndromic and isolated cryptophthalmos. The principal syndromic form is Fraser syndrome (219000), a recessive. They found reports of 27 cases of nonsyndromic cryptophthalmos. Traboulsi et al. (1990) and Saal et al. ... |