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Fried syndrome
Disease definition
Fried syndrome is a rare X-linked mental retardation (XLMR) syndrome characterized by psychomotor delay, intellectual deficit, hydrocephalus, and mild facial anomalies.
ORPHA:85335
Classification level: Disorder- Synonym(s): -
- Prevalence: <1 / 1 000 000
- Inheritance: X-linked recessive
- Age of onset: Infancy, Neonatal
- ICD-10: Q87.8
- OMIM: 304340
- UMLS: -
- MeSH: -
- GARD: -
- MedDRA: -
Summary
Epidemiology
Prevalence is unknown, but the syndrome was originally described in a large Scottish family.
Etiology
Mutations in the AP1S2 gene (Xp22), coding for a subunit of the clathrin-associated adaptor protein complex involved in intracellular protein trafficking and synaptic vesicle recycling, have been identified in seven families.
Diagnostic methods
The presence of basal ganglia calcifications, detectable by CT scan, and elevated CSF protein levels are characteristic features of Fried syndrome and should prompt genetic analysis when found in individuals with XLMR.
Management and treatment
Beyond the management of hydrocephalus and follow-up of psychomotor development, no specific treatment is available.
A summary on this disease is available in Deutsch (2008) Español (2008) Français (2008) Italiano (2008) Nederlands (2008)
Additional information