Radioulnar synostosis-microcephaly-scoliosis syndrome
Synonyms: Giuffré-Tsukahara syndrome · Tsukahara syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Unknown
- Age of onset
- Antenatal, Neonatal
- Status
- active
A rare syndrome with synostosis and limb malformations, characterized by radioulnar synostosis, short stature, microcephaly, scoliosis and intellectual disability. Majority of the patients also have clinodactyly (and sometimes brachymesophalangy) of the fifth fingers, syndactyly and brachydactyly of fingers. Joint laxity of the fingers and knees can also be present. Additional clinical features may include global developmental/psychomotor delay (notably speech delay), attention deficit, hyperactivity and variable dysmorphic features (including hypotelorism, prominent eyes and nose and dysmorphic ears).
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Radioulnar synostosis-microcephaly-scoliosis syndrome | Giuffré-Tsukahara syndrome · Tsukahara syndrome |
| fr | Syndrome de synostose radio-ulnaire-microcéphalie-scoliose | Syndrome de Giuffré-Tsukahara · Syndrome de Tsukahara |
| de | Radioulnare Synostose-Mikrozephalie-Skoliose-Syndrom | Giuffré-Tsukahara-Syndrom · Tsukahara-Syndrom |
| es | Síndrome de sinostosis radiocubital-microcefalia-escoliosis | Síndrome de Giuffré-Tsukahara · Síndrome de Tsukuhara |
| it | Sindrome sinostosi radioulnare-microcefalia-scoliosi | Sindrome di Giuffré-Tsukahara · Sindrome di Tsukahara |
| nl | Radio-ulnaire synostose - microcefalie - scoliose-syndroom | Syndroom van Giuffré-Tsukahara · Syndroom van Tsukahara |
| pt | Síndrome de sinostose radio-cubital-microcefalia-escoliose | Síndrome Tsukuhara |
| pl | Synostoza - małogłowie - skolioza | Zespół Giuffré i Tsukahara · Zespół Tsukahara |
| cs | Syndrom zahrnující radioulnární synostózu, mikrocefalii a skoliózu | Giuffrého-Tsukaharův syndrom · Tsukaharův syndrom · Giuffré-Tsukaharův syndrom |
| uk | Синдром радіоульнарного синостозу-мікроцефалії-сколіозу | Синдром Жюффре-Цукахара · Синдром Цукахара |
| zh | 桡尺骨融合-小头畸形-脊柱侧凸综合征 | Giuffré-Tsukahara综合征 |
| tr | Radioulnar sinostoz-mikrosefali-skolyoz sendromu | Tsukahara sendromu · Giuffré-Tsukahara sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 603438 | E | validated | |
| ICD-10 | Q87.5 | NTBT | attributed | validated |
| MONDO | 0011320 | E | validated | |
| MeSH | C566376 | E | validated | |
| UMLS | C3150890 | E | validated | |
| GARD | 394 | 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 (1):
- ORPHA:93459Syndrome with synostosis or other joint formation defect
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 | 13 cases | Worldwide | Case(s) | Validated | 20635354[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_20635354[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
19 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0007477 | Abnormal dermatoglyphics | |
| HP:0000772 | Abnormal rib morphology | |
| HP:0000164 | Abnormality of the dentition | |
| HP:0009811 | Abnormality of the elbow | |
| HP:0000288 | Abnormality of the philtrum | |
| HP:0004209 | Clinodactyly of the 5th finger | |
| HP:0002750 | Delayed skeletal maturation | |
| HP:0000286 | Epicanthus | |
| HP:0006101 | Finger syndactyly | |
| HP:0001263 | Global developmental delay | |
| HP:0001249 | Intellectual disability | |
| HP:0000252 | Microcephaly | |
| HP:0000768 | Pectus carinatum | |
| HP:0001622 | Premature birth | |
| HP:0002974 | Radioulnar synostosis | |
| HP:0002650 | Scoliosis | |
| HP:0004322 | Short stature | |
| HP:0000664 | Synophrys | |
| HP:0000574 | Thick eyebrow | |
Run the differential on the 12 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/3268
- This record as JSON: /data/d/3268.json