<abstract xml:lang="en" xmlns="http://www.w3.org/1999/xhtml"><p>The oral-facial-digital (OFD) syndrome is a heterogeneous group of abnormalities that share anomalies of the oral cavity, face and digits of hands and feet. On the basis of other anomalies of brain, kidneys, limbs, eyes and other organs, at least 13 subgroups have been described. We here describe four unrelated patients with this syndrome, who have the typical facial, oral and digital anomalies and also anomalies of other organs and systems. Facial features, digital malformations, as well as the existence of additional malformations all of which can be classified into different subgroups. The report points out the difficulty in delineation of the subtypes of OFD syndrome because of the overlapping features between OFD subgroups.</p></abstract>

The oral-facial-digital (OFD) syndrome is a heterogeneous group of abnormalities that share anomalies of the oral cavity, face and digits of hands and feet. On the basis of other anomalies of brain, kidneys, limbs, eyes and other organs, at least 13 subgroups have been described. We here describe four unrelated patients with this syndrome, who have the typical facial, oral and digital anomalies and also anomalies of other organs and systems. Facial features, digital malformations, as well as the existence of additional malformations all of which can be classified into different subgroups. The report points out the difficulty in delineation of the subtypes of OFD syndrome because of the overlapping features between OFD subgroups.

The Many Faces of Oral-Facial-Digital Syndrome

Department of Endocrinology and Genetics, Pediatric Clinic, Skopje, Republic of Macedonia

Department of Neurology, Pediatric Clinic, Skopje, Republic of Macedonia

Department of Neonatology, Pediatric Clinic, Skopje, Republic of Macedonia

Balkan Journal of Medical Genetics

{"article-title":"The Many Faces of Oral-Facial-Digital Syndrome"}

The oral-facial-digital (OFD) syndrome is a heterogeneous group of abnormalities that share anomalies of the oral cavity, face and digits of hands and feet. On...

The Many Faces of Oral-Facial-Digital Syndrome

Pubblicato online: 20 lug 2012

Pagine: 37 - 44

DOI: https://doi.org/10.2478/v10034-012-0006-y

Parole chiave
Oral-facial-digital (OFD) syndrome, Oral cleft, Polydactyly, Ciliopathy, Genetic and clinical heterogeneity

This content is open access.

The Many Faces of Oral-Facial-Digital Syndrome

Pubblicato online: 20 lug 2012

Pagine: 37 - 44

DOI: https://doi.org/10.2478/v10034-012-0006-y

Parole chiaveOral-facial-digital (OFD) syndrome, Oral cleft, Polydactyly, Ciliopathy, Genetic and clinical heterogeneity

This content is open access.

Parole chiave
Oral-facial-digital (OFD) syndrome, Oral cleft, Polydactyly, Ciliopathy, Genetic and clinical heterogeneity