Richieri Costa-da Silva syndrome
General Information (adopted from Orphanet):
| Synonyms, Signs: |
Myotonia - intellectual deficit - skeletal anomalies |
| Number of Symptoms | 22 |
| OrphanetNr: | 3101 |
| OMIM Id: |
255710
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| ICD-10: |
Q87.8 |
| UMLs: |
C2930978 |
| MeSH: |
C535675 |
| MedDRA: |
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| Snomed: |
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Prevalence, inheritance and age of onset:
| Prevalence: | No data available. |
| Inheritance: |
Autosomal recessive inheritance [Omim] |
| Age of onset: |
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Disease classification (adopted from Orphanet):
| Parent Diseases: |
Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual deficit
-Rare genetic disease Multiple congenital anomalies/dysmorphic syndrome without intellectual deficit -Rare developmental defect during embryogenesis Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia -Rare bone disease -Rare developmental defect during embryogenesis -Rare genetic disease |
Symptom Information:
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(HPO:0001256) | Intellectual disability, mild | 141 / 7739 | ||||
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(HPO:0002808) | Kyphosis | Very frequent [Orphanet] | 289 / 7739 | |||
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(HPO:0003312) | Abnormal form of the vertebral bodies | Very frequent [Orphanet] | 172 / 7739 | |||
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(HPO:0001591) | Bell-shaped thorax | 35 / 7739 | ||||
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(HPO:0004349) | Reduced bone mineral density | Very frequent [Orphanet] | 165 / 7739 | |||
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(HPO:0008422) | Vertebral wedging | 7 / 7739 | ||||
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(HPO:0002650) | Scoliosis | Very frequent [Orphanet] | 705 / 7739 | |||
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(HPO:0006361) | Irregular femoral epiphysis | 3 / 7739 | ||||
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(HPO:0002857) | Genu valgum | 144 / 7739 | ||||
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(HPO:0000768) | Pectus carinatum | Very frequent [Orphanet] | 136 / 7739 | |||
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(HPO:0002751) | Kyphoscoliosis | 131 / 7739 | ||||
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(HPO:0004322) | Short stature | Very frequent [Orphanet] | 1232 / 7739 | |||
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(HPO:0003725) | Firm muscles | 3 / 7739 | ||||
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(HPO:0002486) | Myotonia | Very frequent [Orphanet] | 29 / 7739 | |||
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(HPO:0003198) | Myopathy | Very frequent [Orphanet] | 151 / 7739 | |||
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(HPO:0003712) | Skeletal muscle hypertrophy | 42 / 7739 | ||||
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(HPO:0012758) | Neurodevelopmental delay | Very frequent [Orphanet] | 949 / 7739 | |||
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(OMIM) | Rigid gait | 2 / 7739 | ||||
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(OMIM) | Mental retardation, mild-moderate | 6 / 7739 | ||||
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(OMIM) | Progressive impairment of gait | 1 / 7739 | ||||
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(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 | ||||
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(OMIM) | Short vertebrae (thoracolumbar) | 1 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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