Oro-facio-digital syndrome type 5

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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 5 or ( OFD V ) is a very rare congenital disease with a combination of median upper lip column , postaxial polydactyly of the hands and feet and double tongue-tie and one of the Oro-facial-digital syndromes .

Synonyms are: OFD5; Orofacio-digital syndrome Thurston type; Postaxial polydactyly with median cleft of the lower lip; Thurston Syndrome

The first description comes from the year 1909 by the doctor EO Thurston.

distribution

The frequency is given as less than 1 in 1,000,000, so far fewer than 20 people have been reported, most of them from India . Inheritance is autosomal - recessive .

root cause

The disease are mutations in DDX59 - gene on chromosome 1 locus q32.1 basis.

Clinical manifestations

Clinical criteria are:

  • median cleft upper lip
  • postaxial polydactyly of the hands and feet
  • doubled tongue ligament
  • Manifestation as a newborn or toddler

Differential diagnosis

Other forms of orofacio-digital syndrome must be distinguished.

literature

  • JR John, P. Kumar, RK Sharma: Thurston syndrome: an uncommon disorder presenting with common abnormalities. In: The Journal of craniofacial surgery. Volume 24, No. 2, March 2013, pp. E132-e134, doi: 10.1097 / SCS.0b013e318275ee68 , PMID 23524810 (review).
  • VG Naikmasur, A. Rai, MM Revanappa, S. Mutalik: Thurston syndrome: oral and systemic manifestations. Case report and review of the literature. In: Quintessence international. Volume 41, No. 4, April 2010, pp. E75-e79, PMID 20305860 (review).
  • A. Valiathan, A. Sivakumar, D. Marianayagam, M. Valiathan, K. Satyamoorthy: Thurston syndrome: report of a new case. In: Oral surgery, oral medicine, oral pathology, oral radiology, and endodontics. Volume 101, No. 6, June 2006, pp. 757-760, doi: 10.1016 / j.tripleo.2005.08.011 , PMID 16731396 .

Individual evidence

  1. ↑ a b c Oro-facio-digital syndrome type 5. In: Orphanet (database for rare diseases).
  2. ^ EO Thurston: A case of median hare-lip associated with other malformations. In: Lancet , Volume 174, 1909, pp. 996-997.
  3. ↑ Orofaciodigital syndrome V.  In: Online Mendelian Inheritance in Man . (English)