Hyde-Forster-McCarthy-Berry Syndrome

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Classification according to ICD-10
Q87.0 Congenital malformation syndromes with predominant involvement of the face
ICD-10 online (WHO version 2019)

The Hyde-Forster-McCarthy-Berry syndrome is a very rare congenital to the syndromic X-linked mental retardation scoring disease with the main features of severe mental retardation , brachycephaly , plagiocephaly (changes in skull shape) and gross facial features.

Synonyms are: mental retardation, X-linked plagiocephaly; English Mental retardation, X-linked, with craniofacial dysmorphism; Mental retardation, X-linked, Hyde-Forster type

The name refers to the authors of the first description from 1992 by the English pediatrician I. Hyde-Forster and colleagues.

distribution

The frequency is given as less than 1 in 1,000,000, so far only one family has been described. The inheritance is X-linked - recessive .

Clinical manifestations

Clinical criteria are:

  • severe intellectual disability
  • Facial dysmorphism with brachycephaly, plagiocephaly, prominent forehead and coarse facial features
  • in female carriers, moderate intellectual disability without facial abnormalities.

Individual evidence

  1. ↑ a b c Mental retardation, X-linked plagiocephaly. In: Orphanet (Rare Disease Database).
  2. ^ I. Hyde-Forster, G. McCarthy, AC Berry: A new X linked syndrome with mental retardation and craniofacial dysmorphism? In: Journal of medical genetics. Vol. 29, No. 10, October 1992, pp. 736-738, PMID 1433236 , PMC 1016135 (free full text).

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