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Orofaciodigital syndrome type 11

Orpha number ORPHA141000
Synonym(s) OFD11
Oral-facial-digital syndrome type 11
Oral-facial-digital syndrome, Gabrielli type
Orofaciodigital syndrome, Gabrielli type
Prevalence -
Inheritance -
Age of onset -
ICD-10
  • Q87.0
OMIM
UMLS
  • C2752048
MeSH -
MedDRA -
SNOMED CT -

Summary

Oral-facial-digital syndrome type 11 is an extremely rare, sporadic form of oral-facial-digital syndrome (OFDS; see this term) with only a few reported cases, and characterized by facial (blepharophimosis, bulbous nasal tip, broad nasal bridge, downslanting palpebral fissures and low set ears) and skeletal (post-axial polydactyly and fusion of vertebrae) malformations along with severe mental retardation, deafness and congenital heart defects.


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