URUGUAY FACIOCARDIOMUSCULOSKELETAL SYNDROME
General Information (adopted from Orphanet):
| Synonyms, Signs: |
FACIOCARDIOMUSCULOSKELETAL SYNDROME, URUGUAY TYPE FCMS |
| Number of Symptoms | 34 |
| OrphanetNr: | |
| OMIM Id: |
300280
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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: |
X-linked recessive 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:0000278) | Retrognathia | 100 / 7739 | ||||
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(HPO:0000664) | Synophrys | 112 / 7739 | ||||
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(HPO:0000339) | Pugilistic facies | 2 / 7739 | ||||
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(HPO:0000232) | Everted lower lip vermilion | 90 / 7739 | ||||
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(HPO:0000494) | Downslanted palpebral fissures | 328 / 7739 | ||||
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(HPO:0000244) | Brachyturricephaly | 9 / 7739 | ||||
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(HPO:0000336) | Prominent supraorbital ridges | 45 / 7739 | ||||
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(HPO:0000358) | Posteriorly rotated ears | 163 / 7739 | ||||
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(HPO:0000369) | Low-set ears | 372 / 7739 | ||||
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(HPO:0012385) | Camptodactyly | 113 / 7739 | ||||
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(HPO:0002650) | Scoliosis | 705 / 7739 | ||||
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(HPO:0002808) | Kyphosis | 289 / 7739 | ||||
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(HPO:0001836) | Camptodactyly of toe | 27 / 7739 | ||||
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(HPO:0100490) | Camptodactyly of finger | 212 / 7739 | ||||
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(HPO:0001215) | Camptodactyly of 2nd-5th fingers | 8 / 7739 | ||||
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(HPO:0008075) | Progressive pes cavus | 1 / 7739 | ||||
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(HPO:0008141) | Dislocation of toes | 1 / 7739 | ||||
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(HPO:0009473) | Joint contracture of the hand | 84 / 7739 | ||||
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(HPO:0001169) | Broad palm | 43 / 7739 | ||||
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(HPO:0002996) | Limited elbow movement | 16 / 7739 | ||||
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(HPO:0001374) | Congenital hip dislocation | 51 / 7739 | ||||
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(HPO:0001822) | Hallux valgus | 70 / 7739 | ||||
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(HPO:0001821) | Broad nail | 5 / 7739 | ||||
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(HPO:0001653) | Mitral regurgitation | 64 / 7739 | ||||
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(HPO:0001714) | Ventricular hypertrophy | 20 / 7739 | ||||
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(HPO:0001638) | Cardiomyopathy | 192 / 7739 | ||||
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(HPO:0003236) | Elevated serum creatine phosphokinase | 214 / 7739 | ||||
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(HPO:0001608) | Abnormality of the voice | 126 / 7739 | ||||
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(HPO:0009042) | Marked muscular hypertrophy | 1 / 7739 | ||||
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(OMIM) | Normal intelligence | 81 / 7739 | ||||
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(OMIM) | Wide feet | 3 / 7739 | ||||
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(OMIM) | Large eyebrows | 1 / 7739 | ||||
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(HPO:0001419) | X-linked recessive inheritance | 189 / 7739 | ||||
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(OMIM) | Muffled voice | 1 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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