Oro-facio-digital syndrome type 6

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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 Oro-facial-digital syndrome type 6 or ( OFD VI ) is a very rare congenital disease with a combination of neurological changes such as when Joubert syndrome , changes in the face and mouth, and polydactyly . It can be counted among the orofacio-digital syndromes or viewed as a subtype of Joubert syndrome.

Synonyms are: OFD6; Polydactyly - cleft palate - delayed psychomotor development; Varadi-Papp Syndrome; Váradi syndrome

The first description comes from 1980 by the Hungarian pediatricians V. Váradi, L. Szabó and Z. Papp.

distribution

The frequency is given as less than 1 in 1,000,000, the inheritance is partly autosomal - or X-chromosomal - recessive .

root cause

The disease are partly mutations in C5ORF42 - gene on chromosome 5 locus P13.2 or TMEM216 gene on chromosome 11 locus q13.1 basis.

The disease can be viewed as an allele of Joubert syndrome 17.

Clinical manifestations

Clinical criteria are:

  • forked or lobed tongue, tongue hamartoma, multiple frenula
  • not always cleft lip and / or palate
  • Polydactyly with Y-shaped metacarpals
  • sometimes hypothalamic hamartoma

Differential diagnosis

Other forms of orofacio-digital syndrome, Joubert syndrome and C syndrome are to be distinguished .

literature

  • MM Al-Qattan, R. Shaheen, FS Alkuraya: Expanding the allelic disorders linked to TCTN1 to include Varadi syndrome (Orofaciodigital syndrome type VI). In: American journal of medical genetics. Part A. Vol. 173, No. 9, September 2017, pp. 2439-2441, doi: 10.1002 / ajmg.a.38336 , PMID 28631893 .
  • BJ Doss, S. Jolly, F. Qureshi, SM Jacques, MI Evans, MP Johnson, J. Lampinen, WJ Kupsky: Neuropathologic findings in a case of OFDS type VI (Váradi syndrome). In: American journal of medical genetics. Vol. 77, No. 1, April 1998, pp. 38-42, PMID 9557892 .
  • A. Bankier, CM Rose: Varadi syndrome or Opitz trigonocephaly: overlapping manifestation in two cousins. In: American journal of medical genetics. Vol. 53, No. 1, October 1994, pp. 85-88, doi: 10.1002 / ajmg.1320530119 , PMID 7802045 .

Individual evidence

  1. ↑ a b c d Joubert syndrome with oro-facio-digital defect. In: Orphanet (Rare Disease Database).
  2. ^ V. Váradi, L. Szabó, Z. Papp: Syndrome of polydactyly, cleft lip / palate or lingual lump, and psychomotor retardation in endogamic gypsies. In: Journal of medical genetics. Vol. 17, No. 2, April 1980, pp. 119-122, PMID 7381865 , PMC 1048515 (free full text).
  3. ↑ Orofaciodigital syndrome VI.  In: Online Mendelian Inheritance in Man . (English)