/orofaciodigital syndrome X

orofaciodigital syndrome X

Rare Disease

MONDO:0008137

Also Known As

Figuera syndromeOFD10oral-facial-digital syndrome type 10orofaciodigital syndrome Xorofaciodigital syndrome type 10orofaciodigital syndrome type Xorofaciodigital syndrome with fibular aplasiaOFD syndrome 10Ofds 10oral facial digital syndrome 10oral facial digital syndrome type 10oral-Facial-digital syndrome with fibular aplasiaoral-Facial-digital syndrome, type 10oral-facial-digital syndrome 10orofaciodigital syndrome 10orofaciodigital syndrome type Figuera

Definition

Oral-facial-digital syndrome, type 10 is characterized by facial (telecanthus, flat nasal bridge, retrognathia), oral (cleft palate, vestibular frenula) and digital (oligodactyly, preaxial polydactyly) features, associated with remarkable radial shortening, fibular agenesis and coalescence of tarsal bones. The syndrome has been described in one 10-month-old girl. No new cases have been described since 1993.