Brooks-Wisniewski-Brown Syndrome
| Classification according to ICD-10 | |
|---|---|
| Q87.8 | Other specified congenital malformation syndromes, not elsewhere classified |
| ICD-10 online (WHO version 2019) | |
The Brooks Wisniewski Brown Syndrome is a very rare congenital to the non-syndromic X-linked mental retardation scoring disease with the main features of mental retardation , seizures , failure to thrive , short-sightedness and facial abnormalities.
Synonyms are: X-linked mental retardation Brooks type; Mental retardation, X-linked, Brooks type; Brooks-type X-linked intellectual disability; MRXSBWB
The name refers to the first authors of the first description from 1994 by the doctors Susan Sklower Brooks, Krystyna Wisniewski and W. Ted Brown.
distribution
The frequency is given as less than 1 in 1,000,000, inheritance is X-linked - recessive . The cause has not yet been clarified.
Clinical manifestations
Clinical criteria are:
- Failure to thrive
- delayed language acquisition
- mental retardation
- Hypotonia
- spastic diplegia
- Optic atrophy and myopia
- Facial abnormalities with a triangular face, deep-set eyes, deeply attached auricles, short philtrum and thin upper lip
In addition to joint contractures and pectus excavatum come.
literature
- E. Morava, R. Rodenburg, F. Hol, L. De Meirleir, S. Seneca, R. Busch, L. van den Heuvel, J. Smeitink: Mitochondrial dysfunction in Brooks-Wisniewski-Brown syndrome. In: American journal of medical genetics. Part A. Vol. 140, No. 7, April 2006, pp. 752-756, doi: 10.1002 / ajmg.a.31117 , PMID 16477654 .
- E. Morava, J. Storcz, G. Kosztolányi: X-linked mental retardation syndrome: three brothers with the Brooks-Wisniewski-Brown syndrome. In: American journal of medical genetics. Vol. 64, No. 1, July 1996, pp. 59-62, doi : 10.1002 / (SICI) 1096-8628 (19960712) 64: 1 <59 :: AID-AJMG8> 3.0.CO; 2-M , PMID 8826449 .
Individual evidence
- ↑ a b c X-linked Brooks type of intellectual disability. In: Orphanet (Rare Disease Database).
- ^ SS Brooks, K. Wisniewski, WT Brown: New X-linked mental retardation (XLMR) syndrome with distinct facial appearance and growth retardation. In: American journal of medical genetics. Vol. 51, No. 4, July 1994, pp. 586-590, doi: 10.1002 / ajmg.1320510458 , PMID 7943044
