ACROMEGALOID CHANGES, CUTIS VERTICIS GYRATA, AND CORNEAL LEUKOMA
General Information (adopted from Orphanet):
| Synonyms, Signs: |
ROSENTHAL-KLOEPFER SYNDROME |
| Number of Symptoms | 14 |
| OrphanetNr: | |
| OMIM Id: |
102100
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| ICD-10: |
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| 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 inheritance [Omim] |
| Age of onset: |
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Disease classification (adopted from Orphanet):
| Parent Diseases: | No data available. |
Symptom Information:
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(HPO:0010541) | Cutis gyrata of scalp | 6 / 7739 | ||||
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(HPO:0000303) | Mandibular prognathia | 179 / 7739 | ||||
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(HPO:0000478) | Abnormality of the eye | 126 / 7739 | ||||
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(HPO:0001176) | Large hands | 43 / 7739 | ||||
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(HPO:0000098) | Tall stature | 74 / 7739 | ||||
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(HPO:0000977) | Soft skin | 23 / 7739 | ||||
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(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 | ||||
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(HPO:0030314) | Periostosis | 2 / 7739 | ||||
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(OMIM) | Periostosis | 2 / 7739 | ||||
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(OMIM) | Large hands and feet | 3 / 7739 | ||||
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(OMIM) | Large chin | 1 / 7739 | ||||
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(OMIM) | Split ridge dermal ridge pattern | 1 / 7739 | ||||
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(MedDRA:10066968) | Corneal leukoma | 1 / 7739 | ||||
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(OMIM) | Cutis verticis gyrata with longitudinal folding | 1 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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Additional Information:
| Clinical Description OMIM |
Rosenthal and Kloepfer (1962) described a 'new' syndrome with these three features in 13 persons of 4 generations of a Louisiana black family. Through the courtesy of Kloepfer, McKusick (1971) examined affected members of this family. The corneal ... |