Cabezas syndrome

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

The Cabezas syndrome is a very rare congenital disease with the main features of mental retardation , muscle atrophy , dwarfism . The syndrome is counted among the X-linked mental retardations .

Synonyms : mental retardation, X-linked, type Cabezas; Mental retardation, X-linked, Vitale type

The name refers to the first author of a description from 2000 by David A. Cabezas and colleagues.

distribution

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

root cause

The disease are mutations in CUL4B - gene on the X chromosome locus q24 based.

Clinical manifestations

Clinical criteria are:

In addition, there are gait abnormalities, tremors , fine motor disorders .

literature

  • N. Okamoto, M. Watanabe, T. Naruto, K. Matsuda, T. Kohmoto, M. Saito, K. Masuda, I. Imoto: Genome-first approach diagnosed Cabezas syndrome via novel CUL4B mutation detection. In: Human genome variation. Vol. 4, 2017, p. 16045, doi: 10.1038 / hgv.2016.45 , PMID 28144446 , PMC 5243919 (free full text).

Individual evidence

  1. ↑ a b c Cabezas syndrome. In: Orphanet (Rare Disease Database).
  2. ↑ Mental retardation, X-linked, Vitale type. In: Orphanet (Rare Disease Database).
  3. ↑ DA Cabezas, R. Slaugh, F. Abidi, JF Arena, RE Stevenson, CE Schwartz, HA Lubs: A new X linked mental retardation (XLMR) syndrome with short stature, small testes, muscle wasting, and tremor localises to Xq24- q25. In: Journal of medical genetics. Vol. 37, No. 9, September 2000, pp. 663-668, PMID 10978355 , PMC 1734699 (free full text).
  4. ^ Mental retardation, X-linked, syndromic 15 (Cabezas type).  In: Online Mendelian Inheritance in Man . (English).

Web links