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Orofaciodigital Syndrome X (MONDO:0008137)

Open Trait in OLS

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.

Overview

Category

musculoskeletal system disorder

syndromic disease

Ontology ID

Internal:9449

Synonyms

Figuera syndrome

OFD10

oral-facial-digital syndrome type 10

orofaciodigital syndrome X

orofaciodigital syndrome type 10

orofaciodigital syndrome type X

orofaciodigital syndrome with fibular aplasia

OFD syndrome 10

Ofds 10

oral facial digital syndrome 10

oral facial digital syndrome type 10

oral-Facial-digital syndrome with fibular aplasia

oral-Facial-digital syndrome, type 10

oral-facial-digital syndrome 10

orofaciodigital syndrome 10

orofaciodigital syndrome type Figuera

Mapped terms

DOID:0060380

GARD:0004061

MEDGEN:322280

MESH:C563491

OMIM:165590

Orphanet:2756

SCTID:722075004

UMLS:C1833796

Child terms

Unknown children.