Infantile spasms-broad thumbs syndrome
historical
Synonyms: Tsao-Ellingson syndrome
- Type
- Disease
- Group
- Disorder
- Age of onset
- Neonatal
- Status
- historical
Infantile spasms-broad thumbs syndrome is a rare neurologic disorder characterized by profound developmental delay, facial dysmorphism (i.e. microcephaly, large anterior fontanel, hypertelorism, downslanting palpebral fissures, beaked nose, micrognathia), broad thumbs and flexion and/or extension spasms. Bilateral cataracts, hypertrophic cardiomyopathy and hydrocele have also been reported. EEG shows hypsarrhythmic features and MRI may reveal partial agenesis of the corpus callosum, mild brain atrophy and/or ventriculomegaly. There have been no further descriptions in the literature since 1990.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Infantile spasms-broad thumbs syndrome | Tsao-Ellingson syndrome |
| fr | Syndrome de spasmes infantiles-pouces larges | Syndrome de Tsao-Ellingson |
| de | Infantile Krampfanfälle - breite Daumen | Tsao-Ellington-Syndrom |
| es | Síndrome de espasmos-pulgar ancho del lactante | Síndrome de Tsao-Ellington |
| it | Sindrome spasmi infantili - pollici larghi | Sindrome di Tsao-Ellington |
| nl | Infantiele spasmen - brede duimen-syndroom | Syndroom van Tsao-Ellingson |
| pt | Síndrome de espasmos infantis-polegares largos | Síndrome Tsao-Ellingson |
| pl | Napady zgięciowe - szerokie kciuki | Zespół Tsao i Ellingsona |
| cs | Syndrom zahrnující infantilní spazmy a široké palce | Tsaoův-Ellingsonův syndrom · Tsao-Ellingsonův syndrom |
| uk | Синдром інфантильних спазмів - широких великих пальців | Синдром Цао-Еллінгсона |
| zh | 婴儿痉挛-宽拇指综合征 | Tsao-Ellingson综合征 |
| tr | İnfantil spazmlar-geniş başparmak sendromu | Tsao-Ellingson sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | G40.4 | NTBT | attributed | validated |
| MONDO | 0017852 | E | validated | |
| UMLS | C4749287 | E | validated | |
| GARD | 3002 | 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 (3):
- ORPHA:166472Monogenic disease with epilepsy
rare genetic diseases; rare neurological diseases - ORPHA:98641Syndromic cataract
rare ophthalmic disorders - ORPHA:522548Syndromic genetic cataract
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 | 2 cases | Worldwide | Case(s) | Validated | 2335044[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_2335044[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
15 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000235 | Abnormality of the fontanelles or cranial sutures | |
| HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | |
| HP:0011304 | Broad thumb | |
| HP:0000518 | Cataract | |
| HP:0002120 | Cerebral cortical atrophy | |
| HP:0000444 | Convex nasal ridge | |
| HP:0000494 | Downslanted palpebral fissures | |
| HP:0002353 | EEG abnormality | |
| HP:0000316 | Hypertelorism | |
| HP:0001639 | Hypertrophic cardiomyopathy | |
| HP:0000252 | Microcephaly | |
| HP:0000347 | Micrognathia | |
| HP:0000543 | Optic disc pallor | |
| HP:0001250 | Seizure | |
| HP:0100672 | Vaginal hernia | |
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/3173
- This record as JSON: /data/d/3173.json