Fried syndrome

Classification according to ICD-10
Q87.8	Other specified congenital malformation syndromes, not elsewhere classified
ICD-10 online (WHO version 2019)

The Fried syndrome is a very rare congenital disorder with delayed psychomotor development, hydrocephalus and light facial abnormalities. The name refers to K. Fried, the author of the first publication in 1972.

The term Pettigrew syndrome is also used synonymously after a publication by AL Pettigrew in 1991.

Further synonyms are: PGS; Mental retardation, X-linked - Dandy Walker malformation - basal ganglia disease; X-Linked Intellectual Disability-Dandy Walker Malformation-Basal Ganglia Disease-Convulsive Syndrome; Mental retardation, X-linked syndromic 5; MRXS5; Mental retardation, X-linked syndromic, Fried Type; MRXSF; Mental retardation, X-linked 59; MRX59; Mental retardation, X-linked syndromic 21; MRX21

distribution

The frequency is given as less than 1 in 1,000,000, inheritance is X-linked - recessive .

root cause

The disease is based on mutations in the AP1S2 gene at the Xq25-q27 locus.

Clinical manifestations

Characteristic findings are:

Calcifications of the basal ganglia
Facial dysmorphia
Increased protein levels in the CSF .

therapy

A causal treatment is not known, only symptomatically the hydrocephalus can be treated.

literature

L. Strain, AF Wright, DT Bonthron: Fried syndrome is a distinct X linked mental retardation syndrome mapping to Xp22. In: Journal of medical genetics. Vol. 34, No. 7, July 1997, ISSN 0022-2593 , pp. 535-540, PMID 9222959 , PMC 1050991 (free full text).

Individual evidence

↑ ^a ^b ^c Fried syndrome. In: Orphanet (Rare Disease Database).
↑ K. Fried: X-linked mental retardation and-or hydrocephalus. In: Clinical genetics. Vol. 3, No. 4, 1972, ISSN 0009-9163 , pp. 258-263, PMID 5054319 .
↑ AL Pettigrew, LG Jackson, DH Ledbetter: New X-linked mental retardation disorder with Dandy-Walker malformation, basal ganglia disease, and seizures. In: American journal of medical genetics. Vol. 38, No. 2-3, 1991, ISSN 0148-7299 , pp. 200-207, PMID 2018058 .
↑ X-linked intellectual disability-Dandy Walker malformation-basal ganglia disease-convulsive syndrome. In: Orphanet (Rare Disease Database).
↑ ^a ^b Pettigrew syndrome. In: Online Mendelian Inheritance in Man . (English)

[Orpha-1] Fried syndrome. In: Orphanet (Rare Disease Database).

[2] K. Fried: X-linked mental retardation and-or hydrocephalus. In: Clinical genetics. Vol. 3, No. 4, 1972, ISSN 0009-9163 , pp. 258-263, PMID 5054319 .

[3] AL Pettigrew, LG Jackson, DH Ledbetter: New X-linked mental retardation disorder with Dandy-Walker malformation, basal ganglia disease, and seizures. In: American journal of medical genetics. Vol. 38, No. 2-3, 1991, ISSN 0148-7299 , pp. 200-207, PMID 2018058 .

[4] X-linked intellectual disability-Dandy Walker malformation-basal ganglia disease-convulsive syndrome. In: Orphanet (Rare Disease Database).

[omim-5] Pettigrew syndrome. In: Online Mendelian Inheritance in Man . (English)