Tranebjærg-Svejgaard 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 Tranebjaerg-Svejgaard syndrome is a very rare congenital to the syndromic X-linked mental retardation scoring disease with the main features of mental retardation , seizures and psoriasis .

Synonyms are: mental retardation, X-linked - convulsions - psoriasis; English Mental retardation and Psoriasis

The name refers to the first authors of the first description from 1988 by Lisbeth Tranebjærg, Arne Svejgaard and Gert Lykkesfeldt.

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:

  • Beginning in newborns or toddlers
  • Mental retardation
  • Convulsions
  • psoriasis

Differential diagnostics

Must be distinguished is the X-linked recessive ichthyosis .

Individual evidence

  1. ↑ a b Mental retardation, X-linked - convulsions - psoriasis. In: Orphanet (Rare Disease Database).
  2. ↑ a b L. Tranebjaerg, A. Svejgaard, G. Lykkesfeldt: X-linked mental retardation associated with psoriasis: a new syndrome? In: American journal of medical genetics. Vol. 30, No. 1-2, 1988 May-Jun, pp. 263-273, PMID 3177453 .
  3. ↑ Ichthyosis, X-linked recessive. In: Orphanet (Rare Disease Database).

Web links