Radioulnar synostosis-developmental delay-hypotonia syndrome
Synonyms: Der Kaloustian-McIntosh-Silver syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Unknown
- Age of onset
- Neonatal
- Status
- active
Radioulnar synostosis-developmental delay-hypotonia syndrome, also known as Der Kaloustian-McIntosh-Silver syndrome, is an extremely rare syndrome with synostosis described in about 4 patients to date with clinical manifestations including congenital unilateral radioulnar synostosis, generalized hypotonia, developmental delay, and dysmorphic facial features (long face, prominent nose and ears).
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Radioulnar synostosis-developmental delay-hypotonia syndrome | Der Kaloustian-McIntosh-Silver syndrome |
| fr | Syndrome de synostose radio-cubitale-retard de développement-hypotonie | Syndrome de Der Kaloustian-McIntosh-Silver |
| de | Radioulnare Synostose-Entwicklungsretardierung-Hypotonie-Syndrom | Der-Kaloustian-McIntosh-Silver-Syndrom |
| es | Síndrome de sinostosis radiocubital-retraso del desarrollo-hipotonía | Síndrome de Der Kaloustian-McIntosh-Silver |
| it | Sindrome sinostosi radioulnare-ritardo dello sviluppo-ipotonia | Sindrome di Der Kaloustian-McIntosh-Silver |
| nl | Radio-ulnaire synostose - ontwikkelingsachterstand - hypotonie-syndroom | Syndroom van Der Kaloustian-McIntosh-Silver |
| pt | Síndrome de sinostose radio-cubital-perturbação do desenvolvimento-hipotonia | Síndrome Der Kaloustian-McIntosh-Silver |
| pl | Synostoza promieniowo-łokciowa - niepełnosprawność intelektualna - hipotonia | Zespół Der Kaloustiana, McIntosha i Silvera |
| cs | Syndrom zahrnující radioulnární synostózu, opoždění vývoje a hypotonii | Der Kaloustianův-McIntoshův-Silverův syndrom · Der Kaloustian-McIntosh-Silverův syndrom |
| uk | Синдром радіоульнарного синостозу-затримки розвитку-гіпотонії | Синдром Дер Калоустіана-Макінтоша-Сільвера |
| zh | 桡尺骨融合-发育迟滞-低张力综合征 | Der Kaloustian-McIntosh-Silver综合征 |
| tr | Radioulnar sinostoz-gelişme geriliği-hipotoni sendromu | Der Kaloustian-McIntosh-Silver sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 266255 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| MONDO | 0009952 | E | validated | |
| MeSH | C538217 | E | validated | |
| UMLS | C2931776 | E | validated | |
| GARD | 1810 | 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 (6):
- 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:93459Syndrome with synostosis or other joint formation defect
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases - ORPHA:139393Syndromic craniosynostosis
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases - ORPHA:98683Syndromic disorder with strabismus
rare ophthalmic disorders - ORPHA:522520Syndromic genetic disorder with strabismus
rare genetic 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 | 1384331[PMID]_18618994[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_1384331[PMID]_18618994[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
20 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0007477 | Abnormal dermatoglyphics | |
| HP:0000174 | Abnormal palate morphology | |
| HP:0002167 | Abnormality of speech or vocalization | |
| HP:0003011 | Abnormality of the musculature | |
| HP:0000268 | Dolichocephaly | |
| HP:0001288 | Gait disturbance | |
| HP:0001263 | Global developmental delay | |
| HP:0000364 | Hearing abnormality | |
| HP:0001252 | Hypotonia | |
| HP:0000256 | Macrocephaly | |
| HP:0000275 | Narrow face | |
| HP:0000767 | Pectus excavatum | |
| HP:0000426 | Prominent nasal bridge | |
| HP:0000448 | Prominent nose | |
| HP:0000411 | Protruding ear | |
| HP:0002974 | Radioulnar synostosis | |
| HP:0000486 | Strabismus | |
| Frequent (79-30%) | ||
| HP:0000164 | Abnormality of the dentition | |
| HP:0000670 | Carious teeth | |
| HP:0000003 | Multicystic kidney dysplasia | |
Run the differential on the 12 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/3270
- This record as JSON: /data/d/3270.json