ORPHA:2182
Hydrocephalus with stenosis of the aqueduct of Sylvius
Synonyms: Bickers-Adams syndrome · HSAS · X-linked HSAS · X-linked acqueductal stenosis · X-linked hydrocephalus · X-linked hydrocephalus with stenosis of aqueduct of Sylvius
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- X-linked recessive
- Age of onset
- Antenatal, Neonatal
- Status
- active
A congenital, X-linked, clinical subtype of L1 syndrome characterized by severe hydrocephalus often of prenatal onset, adducted thumbs, spasticity (mostly evidenced by brisk tendon reflexes and extensor plantar responses) and moderate to severe intellectual disability. This subtype represents the severe end of the L1 syndrome spectrum and is associated with poor prognosis.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Hydrocephalus with stenosis of the aqueduct of Sylvius | Bickers-Adams syndrome · HSAS · X-linked HSAS · X-linked acqueductal stenosis · X-linked hydrocephalus · X-linked hydrocephalus with stenosis of aqueduct of Sylvius |
| fr | Hydrocéphalie avec sténose de l'aqueduc de Sylvius | HSAS · HSAS liée à l'X · Hydrocéphalie avec sténose de l'aqueduc de Sylvius liée à l'X · Hydrocéphalie liée à l'X · Syndrome de Bickers-Adams |
| de | Hydrozephalus mit Stenose des Aquaeductus Sylvii | Aquäduktstenose, X-chromosomale · Bickers-Adams-Syndrom · HSAS · HSAS, X-chromosomal · Hydrozephalus, X-chromosomaler · X-chromosomaler Hydrozephalus mit Aquäduktstenose |
| es | Hidrocefalia con estenosis del acueducto de Silvio | Estenosis del acueducto ligada al cromosoma X · HSAS · HSAS ligada al cromosoma X · Hidrocefalia ligada al cromosoma X · Hidrocefalia ligada al cromosoma X con estenosis del acueducto de Silvio · Síndrome de Bickers-Adams |
| it | Idrocefalo con stenosi dell'acquedotto di Silvio | HSAS · HSAS legato all'X · Idrocefalo legato all'X · Idrocefalo legato all'X con stenosi dell'acquedotto di Silvio · Sindrome di Bickers-Adams · Stenosi acqueduttale legata all'X |
| nl | Hydrocefalus met stenose van aquaduct van Sylvius | HSAS · Syndroom van Bickers-Adams · X-gebonden HSAS · X-gebonden aquaductale stenose · X-gebonden hydrocefalus · X-gebonden hydrocefalus met stenose van aquaduct van Sylvius |
| pt | Hidrocéfalo com estenose do aqueduto de Sylvius | Estenose do aqueduto de Sylvius ligada ao X · Hidrocefalia ligada ao X |
| pl | Wodogłowie ze zwężeniem wodociągu Sylwiusza | HSAS · HSAS sprzeżony z chromosomem X · Wodogłowie sprzężone z chromosomem X · Wodogłowie ze zwężeniem wodociągu Sylwiusza sprzężone z chromosomem X · Zespół Bickersa i Adamsa · Zwężenie wodociągu sprzężone z chromosomem X |
| cs | Hydrocefalus se stenózou Sylviova mokovodu | HSAS · X-vázaný HSAS · X-vázaná stenóza mokovodu · X-vázaný hydrocefalus · X-vázaný hydrocefalus se stenózou Sylviova mokovodu · Bickersův-Adamsův syndrom · Bickers-Adamsův syndrom |
| uk | Гідроцефалія зі стенозом сільвієва водопроводу | Синдром Бікерса-Адамса · HSAS · Х-зчеплений акведуковий стеноз · Х-подібна система HSAS · Х-зчеплена гідроцефалія · Х-зчеплена гідроцефалія зі стенозом акведуку Сильвія |
| zh | 脑积水伴中脑导水管狭窄 | X连锁中脑导水管狭窄 |
| tr | Sylvius kanalının stenoz ile seyreden hidrosefalisi | HSAS · X'e bağlı HSAS · Bickers-Adams sendromu · X'e bağlı hidrosefali · X'e bağlı akueduktal stenoz · Sylvius akuadukt stenozu ile seyreden X'e bağlı hidrosefali |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 307000 | E | validated | |
| ICD-10 | Q03.0 | NTBT | inclusion | validated |
| ICD-11 | LA04.0 | E | specific | validated |
| MONDO | 0010611 | E | validated | |
| MeSH | C536078 | E | validated | |
| UMLS | C0265216 | E | validated | |
| GARD | 434 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:275543L1 syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases; rare neurological diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| L1CAM | Disease-causing germline mutation(s) in | Assessed | HGNC:6470 | ENSG00000198910 | 308840 | Xq28 | L1 cell adhesion molecule | 20301657[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Prevalence at birth | 1-9 / 100 000 | 1.7 / 100 000 | Worldwide | Value and class | Not yet validated | 22344793[PMID]_20301657[PMID] |
| Point prevalence | 1-9 / 100 000 | 1.7 / 100 000 | Worldwide | Value and class | Not yet validated | 22344793[PMID]_20301657[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.
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HPO phenotypes
15 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002410 | Aqueductal stenosis | |
| HP:0004374 | Hemiplegia/hemiparesis | |
| HP:0000238 | Hydrocephalus | |
| HP:0002516 | Increased intracranial pressure | |
| HP:0010864 | Intellectual disability, severe | |
| HP:0001257 | Spasticity | |
| Frequent (79-30%) | ||
| HP:0001181 | Adducted thumb | |
| Occasional (29-5%) | ||
| HP:0001331 | Absent septum pellucidum | |
| HP:0001274 | Agenesis of corpus callosum | |
| HP:0000280 | Coarse facial features | |
| HP:0001360 | Holoprosencephaly | |
| HP:0001387 | Joint stiffness | |
| HP:0000639 | Nystagmus | |
| HP:0001250 | Seizure | |
| HP:0000486 | Strabismus | |
Run the differential on the 6 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2182
- This record as JSON: /data/d/2182.json