Stoll-Géraudel-Chauvin 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 Stoll-Géraudel-Chauvin syndrome is a very rare congenital disorder belonging to the syndromic X-linked mental retardation with the main characteristics of intellectual disability , short stature and hypertelorism .

Synonyms are: mental retardation, X-linked - short stature - hypertelorism; English Intellectual disability-short stature-hypertelorism syndrome

The name refers to the authors of the first description from 1991 by the French doctors Claude Stoll, André Géraudel and Annick Chauvin.

The independence of the syndrome is not assured; it may be part of the FG syndrome .

distribution

The frequency is given as less than 1 in 1,000,000, so far a family over three generations has been described. The cause and mode of inheritance are unknown.

Clinical manifestations

Clinical criteria are:

  • mental disability
  • Short stature
  • Facial abnormalities with a prominent forehead , hypertelorism, broad nose tip and nostrils pointing forward

Individual evidence

  1. ↑ a b Mental retardation, X-linked - short stature - hypertelorism. In: Orphanet (Rare Disease Database).
  2. ^ A b C. Stoll, A. Géraudel, A. Chauvin: New X-linked syndrome of mental retardation, short stature, and hypertelorism. In: American journal of medical genetics. Vol. 39, No. 4, June 1991, pp. 474-478, doi: 10.1002 / ajmg.1320390421 , PMID 1877628 .
  3. ↑ A. Bottani: X-linked syndrome of mental retardation, short stature, and hypertelorism: a new syndrome or A Further Example of the FG syndrome? In: American journal of medical genetics. Vol. 51, No. 1, May 1994, pp. 87-88, doi: 10.1002 / ajmg.1320510121 , PMID 8030678 .

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