Lindsay Burn Syndrome
| Classification according to ICD-10 | |
|---|---|
| F71.1 | Mild mental retardation, marked behavioral disorder requiring observation or treatment |
| ICD-10 online (WHO version 2019) | |
The Lindsay-Burn syndrome is a very rare congenital to the syndromic X-linked mental retardation scoring disease with the main features of mental retardation , manic-depressive psychosis , pyramidal signs and enlarged testicles ( Makroorchidie ).
Synonyms are: mental retardation, X-linked - psychosis - macroorchidy, English Mental retardation, X-linked, syndromic 13; MRXS13; Mental retardation, X-linked 79; MRX79; Mental retardation, X-linked 16; MRX16; Mental retardation, X-linked, With Spasticity; Mental retardation With Psychosis, Pyramidal Signs, And Macroorchidism; PPMX
The name refers to the first description from 1996 by the English human geneticist Susan Lindsay and J. Burn and colleagues.
distribution
The frequency is given as less than 1 in 1,000,000, so far only one family has been described. Inheritance is X-linked - dominant .
root cause
Of the disease are mutations in the MECP2 - gene on the X chromosome locus q28 based coding for the transcription factor encoding methyl-CpG-binding protein. 2 Mutations in this gene are also implicated in Rett syndrome .
Clinical manifestations
Clinical criteria are:
- Moderate mental and cognitive disabilities, mental retardation , learning disabilities
- manic-depressive psychosis
- Pyramid orbit signs , tremor , shuffling gait, increased muscle tone (muscle stiffness) and increased tendon reflexes, spasms
- Macro orchid
Individual evidence
- ↑ a b c Mental retardation, X-linked - psychosis - macroorchidia. In: Orphanet (Rare Disease Database).
- ^ S. Lindsay, M. Splitt, S. Edney, TP Berney, SJ Knight, KE Davies, O. O'Brien, M. Gale, J. Burn: PPM-X: a new X-linked mental retardation syndrome with psychosis , pyramidal signs, and macroorchidism maps to Xq28. In: American Journal of Human Genetics . Vol. 58, No. 6, June 1996, pp. 1120-1126, PMID 8651288 , PMC 1915053 (free full text).
- ^ Mental retardation, X-linked, syndromic 13. In: Online Mendelian Inheritance in Man . (English)
- ^ Right Diagnosis
