Oro-facio-digital syndrome type 7

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 7 or ( OFD VII; Whelan syndrome ) is a very rare congenital disease and is one of the oro-facial-digital syndrome .

The name refers to the first description from 1975 by the doctors DT Whelan and colleagues.

The disease is considered (by some authors) to be identical to orofacio-digital syndrome type 1 , but is still listed separately in the previous classifications.

Individual evidence

↑ ^a ^b Oro-facio-digital syndrome type 7. In: Orphanet (database for rare diseases).
↑ Orofacialdigital syndrome VII. In: Online Mendelian Inheritance in Man . (English)
^ DT Whelan, W. Feldman, I. Dost: The oro-facial-digital syndrome. In: Clinical genetics. Volume 8, Number 3, September 1975, pp. 205-212, PMID 1175324 .
↑ MJ Nowaczyk, p Zeesman, DT Whelan, V. Wright, SA Feather: Oral-facial-digital syndrome VII is oral-facial-digital syndrome I: a clarification. In: American journal of medical genetics. Part A. Volume 123A, Number 2, December 2003, pp. 179-182, doi: 10.1002 / ajmg.a.20215 , PMID 14598343 .
^ 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
↑ F. Gurrieri, B. Franco, H. Toriello, G. Neri: Oral-facial-digital syndromes: review and diagnostic guidelines. In: American journal of medical genetics. Part A. Volume 143A, Number 24, December 2007, pp. 3314-3323, doi : 10.1002 / ajmg.a.32032 , PMID 17963220 (review).

[Orpha-1] Oro-facio-digital syndrome type 7. In: Orphanet (database for rare diseases).

[2] Orofacialdigital syndrome VII. In: Online Mendelian Inheritance in Man . (English)

[3] DT Whelan, W. Feldman, I. Dost: The oro-facial-digital syndrome. In: Clinical genetics. Volume 8, Number 3, September 1975, pp. 205-212, PMID 1175324 .

[4] MJ Nowaczyk, p Zeesman, DT Whelan, V. Wright, SA Feather: Oral-facial-digital syndrome VII is oral-facial-digital syndrome I: a clarification. In: American journal of medical genetics. Part A. Volume 123A, Number 2, December 2003, pp. 179-182, doi: 10.1002 / ajmg.a.20215 , PMID 14598343 .

[5] 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

[6] F. Gurrieri, B. Franco, H. Toriello, G. Neri: Oral-facial-digital syndromes: review and diagnostic guidelines. In: American journal of medical genetics. Part A. Volume 143A, Number 24, December 2007, pp. 3314-3323, doi : 10.1002 / ajmg.a.32032 , PMID 17963220 (review).