ODCs

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1 OMIM reference -
1 associated gene
12 signs/symptoms

COMMON GENES: 1
COMMON SIGNS: 5

1 OMIM reference -
1 associated gene
16 signs/symptoms

MASA syndrome

Hydrocephalus with stenosis of aqueduct of Sylvius

Citations in the biomedical literature:

MASA syndrome		Hydrocephalus with stenosis of aqueduct of Sylvius
	Synonym(s): - Intellectual defici-aphasia-shuffling gait-adducted thumbs 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 (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease - Rare neurologic disease

	Classification (ICD10): - Diseases of the nervous system -		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

	Epidemiological data: Class of prevalence: unknown Average age onset: neonatal/infancy Average age of death: no data available Type of inheritance: x-linked recessive		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 - 1 MeSH reference: C536029		External references: 1 OMIM reference - No MeSH references


COMMON SIGNS	- Clasp thumb / thumb adduction / distal thumb phalangeal bone deviated / large - Corpus callosum / septum pellucidum total / partial agenesis - Hemiplegia / diplegia / hemiparesia / limb palsy - Intellectual deficit / mental / psychomotor retardation / learning disability - X-linked recessive inheritance

MASA syndrome		Hydrocephalus with stenosis of aqueduct of Sylvius
	Very frequent - Abnormal gait - Hypereflexia - Short stature / dwarfism / nanism - Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia Frequent - Camptodactyly of fingers - Clinodactyly of fifth finger Occasional - Dilated cerebral ventricles without hydrocephaly		Very frequent - Cranial hypertension - Hydrocephaly - Hypertonia / spasticity / rigidity / stiffness - Stenosis of aqueduc of Sylvius Occasional - Autosomal recessive inheritance - Coarse face - Holoprosencephaly / arhinencephaly / unique lateral ventricle - Nystagmus - Restricted joint mobility / joint stiffness / ankylosis - Seizures / epilepsy / absences / spasms / status epilepticus - Strabismus / squint