Richieri Costa-da Silva syndrome
historical
Synonyms: Myotonia-intellectual disability-skeletal anomalies syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Age of onset
- Childhood
- Status
- historical
Richieri Costa-da Silva syndrome is a rare, genetic, myotonic syndrome characterized by childhood onset of progressive and severe myotonia (with generalized muscular hypertrophy and progressive impairment of gait), short stature, skeletal abnormalities (including pectus carinatum, short, wedge-shaped thoracolumbar vertebrae, kyphoscoliosis, genu valgum, irregular femoral epiphyses), and mild to moderate intellectual deficiency. No facial dysmorphism nor joint limitation is associated. There have been no further descriptions in the literature since 1984.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Richieri Costa-da Silva syndrome | Myotonia-intellectual disability-skeletal anomalies syndrome |
| fr | Syndrome de Richieri-Costa-da Silva | Syndrome de myotonie-déficience intellectuelle-anomalies squelettiques |
| de | Richieri-Costa-da-Silva-Syndrom | Myotonie-Intelligenzminderung-Skelettanomalie-Syndrom |
| es | Síndrome de Richieri Costa-da Silva | Síndrome de miotonia-discapacidad intelectual-anomalías esqueléticas |
| it | Sindrome di Richieri Costa-da Silva | Sindrome miotonia-disabilità intellettiva-anomalie scheletriche |
| nl | Syndroom van Richieri Costa-da Silva | Myotonie - intellectuele achterstand - skeletanomalieën-syndroom |
| pt | Síndrome Richieri Costa-da Silva | Síndrome de miotonia-perturbação do desenvolvimento intelectual-anomalias esqueléticas |
| pl | Zespół Richieri Costa i da Silva | Miotonia - niepełnosprawność intelektualna - wady szkieletu |
| cs | Richieri Costův-da Silvův syndrom | Syndrom zahrnující myotonii, mentální retardaci a anomálie skeletu · Richieri Costa-da Silvův syndrom |
| uk | Синдром Річчієрі Коста-да Сільва | Синдром міотонії - інтелектуальної недостатності - скелетних аномалій |
| zh | Richieri Costa-da Silva综合征 | 肌强直-智力障碍-骨骼异常综合征 |
| tr | Richieri Costa-da Silva sendromu | Miyotoni-zihinsel yetersizlik-iskelet anomalileri sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 255710 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| MONDO | 0009716 | E | validated | |
| MeSH | C535675 | E | validated | |
| UMLS | C2930978 | E | validated | |
| GARD | 4709 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (4):
- ORPHA:206973Congenital myotonia
rare genetic diseases; rare neurological diseases - ORPHA:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological diseases - ORPHA:253Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 4 cases | Worldwide | Case(s) | Validated | 6716408[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_6716408[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
36 annotations · validated 2019-03-14| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0006462 | Generalized bone demineralization | |
| HP:0012899 | Handgrip myotonia | |
| HP:0002187 | Intellectual disability, profound | |
| HP:0011964 | Intermittent painful muscle spasms | |
| HP:0002751 | Kyphoscoliosis | |
| HP:0012903 | Myotonia of the upper limb | |
| HP:0000768 | Pectus carinatum | |
| HP:0004322 | Short stature | |
| Frequent (79-30%) | ||
| HP:0005638 | Decreased anterioposterior diameter of lumbar vertebral bodies | |
| HP:0009053 | Distal lower limb muscle weakness | |
| HP:0002015 | Dysphagia | |
| HP:0100288 | EMG: myokymic discharges | |
| HP:0002527 | Falls | |
| HP:0003712 | Skeletal muscle hypertrophy | |
| HP:0008422 | Vertebral wedging | |
| HP:0001621 | Weak voice | |
| Occasional (29-5%) | ||
| HP:0001284 | Areflexia | |
| HP:0007156 | Asymmetric limb muscle stiffness | |
| HP:0004568 | Beaking of vertebral bodies | |
| HP:0003199 | Decreased muscle mass | |
| HP:0000565 | Esotropia | |
| HP:0002857 | Genu valgum | |
| HP:0001265 | Hyporeflexia | |
| HP:0002540 | Inability to walk | |
| HP:0001840 | Metatarsus adductus | |
| Excluded (0%) | ||
| HP:0000164 | Abnormality of the dentition | |
| HP:0001620 | Abnormally high-pitched voice | |
| HP:0000581 | Blepharophimosis | |
| HP:0001540 | Diastasis recti | |
| HP:0012368 | Flat face | |
| HP:0001373 | Joint dislocation | |
| HP:0001376 | Limitation of joint mobility | |
| HP:0000294 | Low anterior hairline | |
| HP:0000369 | Low-set ears | |
| HP:0000160 | Narrow mouth | |
| HP:0000470 | Short neck | |
Annotation source: 6716408[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/3101
- This record as JSON: /data/d/3101.json