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Orofaciodigital syndrome type 10

ORPHA2756
Synonym(s) Figuera syndrome
OFD10
Oral-facial-digital syndrome type 10
Orofaciodigital syndrome with fibular aplasia
Prevalence <1 / 1 000 000
Inheritance Unknown
Age of onset Infancy
Neonatal
ICD-10
  • Q87.0
OMIM
UMLS -
MeSH -
MedDRA -

Summary

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.


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