Oro-facio-digital syndrome type 10

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 10 or ( OFD X ) is a very rare congenital disease with a combination of facial dysmorphism , cleft palate , oligodactyly and Polydactyly as in the oro-facial-digital syndrome and also shortening the radius and fibulare hemimelia .

Synonyms are: Figuera syndrome; OFD10; Oro-facio-digital syndrome with fibular aplasia

The first description comes from 1993 by the Mexican human geneticist LE Figuera and colleagues.

distribution

Frequency and possible mode of inheritance are not known, so far only one individual observation has been described.

Clinical criteria are:

Facial dysmorphism with telekanthus , flat bridge of the nose, retro genius
Cleft palate, abnormal ligaments of the tongue
Skeletal changes with oligo- and polydactyly as well as considerably shortened radius, agenesis of the fibula and tarsal coalition

Other forms of orofacio-digital syndrome must be distinguished.

H. Taybi, R. Lachman: Radiology of Syndromes, Metabolic Disorders, and Skeletal Dysplasias. , 4th edition 1996.
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

↑ ^a ^b ^c Oro-facio-digital syndrome type 10. In: Orphanet (database for rare diseases).
↑ LE Figuera, F. Rivas, JM Cantú: Oral-facial-digital syndrome with fibular aplasia: a new variant. In: Clinical genetics. Vol. 44, No. 4, October 1993, pp. 190-192, PMID 8261648 .