Prieto syndrome

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

The Prieto syndrome is a very rare congenital X-linked mental retardation with the additional features facial dysmorphism , patella luxation , and abnormal tooth development .

Synonyms are:

Prieto Badia Mulas Syndrome
English Prieto X-Linked Mental Retardation Syndrome (PRS for short)
Mental Retardation, X-Linked, Syndromic 2 (MRXS2 for short)
Mental retardation, X-Linked, with dsymorphism and cerebral atrophy

The name refers to the first author (s) of the first description from 1987 by the Spanish doctors F. Prieto, L. Badía, F. Mulas and colleagues and was proposed by the German human geneticist Anke Watty and colleagues in 1991.

distribution

The frequency is given as less than 1 in 1,000,000, so far a family affected in several generations has been described. The inheritance is X-linked - recessive .

root cause

The disease is based on mutations on the X chromosome locus p11-q21.

Clinical manifestations

Clinical criteria are:

mental retardation
Facial dysmorphism
Patellar luxation
abnormal tooth growth

literature

F. Martínez, F. Prieto, A. Gal: Refined localization of the Prieto syndrome locus. In: American journal of medical genetics. Volume 64, No. 1, July 1996, p. 82, doi : 10.1002 / (SICI) 1096-8628 (19960712) 64: 1 <82 :: AID-AJMG14> 3.0.CO; 2-O , PMID 8826455 .

Web links

Rare Diseases

Individual evidence

↑ ^a ^b ^c Mental retardation, X-linked dysmorphism - cerebral atrophy. In: Orphanet (Rare Disease Database).
↑ F. Prieto, L. Badía, F. Mulas, A. Monfort, F. Mora: X-linked dysmorphic syndrome with mental retardation. In: Clinical genetics. Volume 32, No. 5, November 1987, pp. 326-334, PMID 3121220 .
^ A. Watty, F. Prieto, M. Beneyto, M. Neugebauer, A. Gal: Gene localization in a family with X-linked syndromal mental retardation (Prieto syndrome). In: American journal of medical genetics. Vol. 38, No. 2-3, 1991 Feb-Mar, pp. 234-239, PMID 1673297 .
↑ Prieto syndrome. In: Online Mendelian Inheritance in Man . (English)

[Orpha-1] Mental retardation, X-linked dysmorphism - cerebral atrophy. In: Orphanet (Rare Disease Database).

[2] F. Prieto, L. Badía, F. Mulas, A. Monfort, F. Mora: X-linked dysmorphic syndrome with mental retardation. In: Clinical genetics. Volume 32, No. 5, November 1987, pp. 326-334, PMID 3121220 .

[3] A. Watty, F. Prieto, M. Beneyto, M. Neugebauer, A. Gal: Gene localization in a family with X-linked syndromal mental retardation (Prieto syndrome). In: American journal of medical genetics. Vol. 38, No. 2-3, 1991 Feb-Mar, pp. 234-239, PMID 1673297 .

[4] Prieto syndrome. In: Online Mendelian Inheritance in Man . (English)