Carney complex-trismus-pseudocamptodactyly syndrome
General Information (adopted from Orphanet):
| Synonyms, Signs: |
Carney complex variant |
| Number of Symptoms | 8 |
| OrphanetNr: | 319340 |
| OMIM Id: |
608837
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| ICD-10: |
Q68.8 |
| 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: | > 20 families - PMID: 17041932 [IBIS] |
| Inheritance: |
Autosomal dominant - PMID: 17041932 [IBIS] |
| Age of onset: |
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Disease classification (adopted from Orphanet):
| Parent Diseases: |
Genetic cardiac tumor
-Rare genetic disease Genetic hyperpigmentation of the skin -Rare genetic disease Heart-hand syndrome -Rare bone disease -Rare developmental defect during embryogenesis Hyperpigmentation of the skin -Rare skin disease Rare cardiac tumor -Rare cardiac disease -Rare oncologic disease |
Comment:
| "The trismus–pseudocamptodactyly syndrome with freckling may or may not be associated with familial myxomas and may or may not be caused by a single mutation of the MYH8 gene, but our data indicate that this disorder is distinct from the Carney complex" (PMID:15590965). |
Symptom Information:
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(HPO:0000160) | Narrow mouth | 17041932 | IBIS | 188 / 7739 | ||
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(HPO:0000211) | Trismus | 17041932 | IBIS | 9 / 7739 | ||
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(HPO:0100490) | Camptodactyly of finger | 17041932 | IBIS | 212 / 7739 | ||
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(HPO:0001762) | Talipes equinovarus | 17041932 | IBIS | 309 / 7739 | ||
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(HPO:0005684) | Distal arthrogryposis | 17041932 | IBIS | 31 / 7739 | ||
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(HPO:0004322) | Short stature | 17041932 | IBIS | 1232 / 7739 | ||
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(HPO:0001480) | Freckling | 15590965 | IBIS | 13 / 7739 | ||
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(HPO:0011672) | Cardiac myxoma | 17041932 | IBIS | 3 / 7739 |
Associated genes:
| MYH8 |
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
|---|---|---|---|
| MYH8 | rs121434590 | pathogenic | RCV000015197.25 |