Clark-Baraitser 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 Clark Baraitser syndrome ( synonym Baraitser syndrome ) is a rare congenital disease with the main features of mental retardation , macrocephaly , facial dysmorphia , obesity and Makroorchidie .

The name refers to the first authors of the first description from 1987 by Robin Dawn Clark and the human geneticist Michael Baraitser.

The disease is not to be confused with other syndromes named after Baraitser.

Occurrence and causes

The frequency and cause are not yet known. Due to the suspected X-linked inheritance , the disease can be counted among the X-linked mental retardations . So far, only five victims have been reported.

Clinical manifestations

Clinical criteria are:

  • Mental disability
  • Macrocephaly
  • Facial abnormalities with a rectangular forehead , protruding bulge above the eye , broad tip of the nose, prominent lower lip , large auricles
  • Obesity
  • Macro orchid

Differential diagnosis

To be delimited is u. a. the Atkin-Flaitz syndrome with short stature and hypertelorism .

literature

  • E. Tabolacci, M. Zollino, R. Lecce, E. Sangiorgi, F. Gurrieri, V. Leuzzi, JM Opitz, G. Neri: Two brothers with 22q13 deletion syndrome and features suggestive of the Clark-Baraitser syndrome. In: Clinical dysmorphology. Vol. 14, No. 3, July 2005, pp. 127-132, PMID 15930901 .

Individual evidence

  1. ↑ CLARK-BARAITSER SYNDROME.  In: Online Mendelian Inheritance in Man . (English)
  2. ↑ a b R. D. Clark, M. Baraitser: A new X-linked mental retardation syndrome. In: American journal of medical genetics. Vol. 26, No. 1, January 1987, pp. 13-15, doi: 10.1002 / ajmg.1320260104 , PMID 3812552 .
  3. ^ A. Mendicino, G. Sabbadini, MS Pergola: Clark-Baraitser syndrome: report of a new case and review of the literature. In: Clinical dysmorphology. Vol. 14, No. 3, July 2005, pp. 133-135, PMID 15930902 (review).
  4. ↑ M. Baraitser, W. Reardon, S. Vijeratnam: Nonspecific X-linked mental retardation with macrocephaly and obesity: a further family. In: American journal of medical genetics. Vol. 57, No. 3, July 1995, pp. 380-384, doi: 10.1002 / ajmg.1320570303 , PMID 7677138 .