Oro-facio-digital syndrome type 9

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 9 or ( OFD IX ) is a very rare congenital disease with a combination of facial dysmorphia , supernumerary canines in the lower jaw , short stature , skeletal deformities and abnormalities of the retina and is one of the Oro-facial-digital syndromes .

Synonyms are: OFD9; Oro-facio-digital syndrome with retinal anomalies The first description comes from 1992 by the Italian doctors F. Gurrieri, V. Sammito and colleagues.

distribution

The frequency is given as less than 1 in 1,000,000, so far 10 people have been reported. The inheritance is presumably autosomal - recessive .

Clinical manifestations

Clinical criteria are:

Facial dysmorphism with a high palate , notched tongue , multiple ligaments, hamartomas , hypertelorism , strabismus , wide nasal tip
Short stature
Double arrangement of the big toe , forked metatarsals , poly- and syndactyly
mild mental retardation
Retinal abnormalities such as bilateral coloboma of the optic nerve papilla , retinal dysplasia with incomplete retinal detachment

Differential diagnosis

Other forms of orofacio-digital syndrome must be distinguished.

literature

NC Nevin, J. Silvestri, DC Kernohan, WM Hutchinson: Oral-facial-digital syndrome with retinal abnormalities: OFDS type IX. A further case report. In: American journal of medical genetics. Vol. 51, No. 3, July 1994, pp. 228-231, doi: 10.1002 / ajmg.1320510311 , PMID 8074150 .
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

↑ ^a ^b ^c Oro-facio-digital syndrome type 9. In: Orphanet (database for rare diseases).
↑ F. Gurrieri, V. Sammito, B. Ricci, M. Iossa, A. Bellussi, G. Neri: Possible new type of oral-facial-digital syndrome with retinal abnormalities: OFDS type (VIII) In: American journal of medical genetics. Vol. 42, No. 6, April 1992, pp. 789-792, doi: 10.1002 / ajmg.1320420608 , PMID 1554016 .

Web links

Orofaciodigital syndrome IX. In: Online Mendelian Inheritance in Man . (English)

[Orpha-1] Oro-facio-digital syndrome type 9. In: Orphanet (database for rare diseases).

[2] F. Gurrieri, V. Sammito, B. Ricci, M. Iossa, A. Bellussi, G. Neri: Possible new type of oral-facial-digital syndrome with retinal abnormalities: OFDS type (VIII) In: American journal of medical genetics. Vol. 42, No. 6, April 1992, pp. 789-792, doi: 10.1002 / ajmg.1320420608 , PMID 1554016 .