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oral-facial-digital syndrome
Epidemiology: males
Genetics:
1) X-linked dominant
2) associated with defects in OFD1 gene
Clinical manifestations:
1) clefts of the jaw & tongue in the area of the lateral incisors & canines
2) malformations of the face & skull
3) malformation of the hands
- syndactyly, clinodactyly, brachydactyly & occasionally postaxial polydactyly)
4) mental retardation
5) polycystic kidney disease
6) lethal in males
General
genetic syndrome (multisystem disorder)
developmental disorder
Database Correlations
OMIM 311200
References
OMIM :accession 311200