Oro-facio-digital syndrome type 11

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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 11 or ( OFD XI ) is a very rare congenital disease with a combination of facial dysmorphia , polydactyly , fusion of vertebrae , significant mental retardation , deafness , and congenital heart disease and is one of the Oro-facial-digital syndromes .

Synonyms are: OFD11; Oro-facio-digital syndrome Gabrielli type

The first description comes from 1994 by the Italian pediatricians Orazio Gabrielli, Anna Ficcadenti, Giancarlo Fabrizzi and colleagues.

Spread and cause

The frequency is given as less than 1 in 1,000,000, so far only a few affected people have been described. The cause and a possible mode of inheritance are not known.

Clinical manifestations

Clinical criteria are:

  • Manifestation as a newborn
  • Blepharophimosis , wide bridge of the nose, thick nasal tip, deeply attached auricles
  • postaxial polydactyly and vertebral body fusions
  • severe intellectual disability
  • congenital heart defects

Differential diagnosis

Other forms of orofacio-digital syndrome must be distinguished.

literature

  • MG Obregón, CZ Barreiro: Oral-facial-digital syndrome gabrielli type: second report. In: American journal of medical genetics. Part A. Vol. 118A, No. 4, May 2003, pp. 369-371, doi: 10.1002 / ajmg.a.10073 , PMID 12687670 .
  • B. Franco, Ch. Thauvin-Robinet: Update on oral-facial-digital syndromes (OFDS). In: Cilia. Vol. 5, p. 12, 2016, doi: 10.1186 / s13630-016-0034-4

Individual evidence

  1. ↑ a b c Oro-facio-digital syndrome type 11. In: Orphanet (database for rare diseases).
  2. ↑ O. Gabrielli, A. Ficcadenti, G. Fabrizzi, P. Perri, A. Mercuri, GV Coppa, P. Giorgi: Child with oral, facial, digital, and skeletal anomalies and psychomotor delay: a new OFDS form? In: American journal of medical genetics. Vol. 53, No. 3, November 1994, pp. 290-293, doi: 10.1002 / ajmg.1320530315 , PMID 7531942 .

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