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Hydrocephalus with stenosis of aqueduct of Sylvius
1 OMIM reference -
1 associated gene
15 connected diseases
16 signs/symptoms
Disease Type of connection
Hirschsprung disease
MASA syndrome
X-linked complicated corpus callosum dysgenesis
X-linked complicated spastic paraplegia type 1
Benign adult familial myoclonic epilepsy
Familial Alzheimer-like prion disease
Fatal familial insomnia
Gerstmann-Straussler-Scheinker syndrome
Huntington disease-like 1
Inherited Creutzfeldt-Jakob disease
8p11.2 deletion syndrome
Hereditary spherocytosis
Autosomal recessive nonsyndromic sensorineural deafness type DFNB
Congenital lethal myopathy, Compton-North type
Romano-Ward syndrome
Synonym(s):
- Bickers-Adams syndrome
- HSAS
- X-linked HSAS
- X-linked acqueductal stenosis
- X-linked hydrocephalus with stenosis of aqueduct of Sylvius
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Epidemiological data:
Class of prevalence: 1-9 / 100 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: x-linked recessive
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
L1CAM P32004308840
Very frequent
- Cranial hypertension
- Hemiplegia / diplegia / hemiparesia / limb palsy
- Hydrocephaly
- Hypertonia / spasticity / rigidity / stiffness
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Stenosis of aqueduc of Sylvius
- X-linked recessive inheritance

Frequent
- Clasp thumb / thumb adduction / distal thumb phalangeal bone deviated / large

Occasional
- Autosomal recessive inheritance
- Coarse face
- Corpus callosum / septum pellucidum total / partial agenesis
- Holoprosencephaly / arhinencephaly / unique lateral ventricle
- Nystagmus
- Restricted joint mobility / joint stiffness / ankylosis
- Seizures / epilepsy / absences / spasms / status epilepticus
- Strabismus / squint