Oro-facial-digital syndrome type II. Report of the case

Oro-facial-digital syndrome (OFD) is a rare congenital disorder. Its incidence in the general population ranges from less than 1/1.000.000 to 1/250.000 living births. Patients usually present developmental disorders that affect the mouth, face, hands and feet. So far, most of the genes involved are...

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Bibliographic Details
Published in:Iatreia (Medellín, Colombia) Colombia), 2017-01, Vol.30 (1), p.86-91
Main Authors: Edel, Tamy, Zárate-Sanabria, Andrés Gabriel, Briceño-Balcázar, Ignacio, Martínez-Lozano, Julio César
Format: Article
Language:Spanish
Subjects:
Cleft lip/palate
Hearing Loss
OFD type II variant
Syndrome Oro-Facial-Digital
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Summary:Oro-facial-digital syndrome (OFD) is a rare congenital disorder. Its incidence in the general population ranges from less than 1/1.000.000 to 1/250.000 living births. Patients usually present developmental disorders that affect the mouth, face, hands and feet. So far, most of the genes involved are unknown, so diagnosis is clinical. We report the case of a child with oral, facial, and digital alterations, and hearing impairment suggestive of the OFD syndrome. Phenotype was consistent with the type II variant. Discussion is based on the criteria for variants of the syndrome.
ISSN:0121-0793
2011-7965
DOI:10.17533/udea.iatreia.v30n1a09