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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Orofaciodigital syndrome 1


Other Names for this Disease
  • OFD syndrome 1
  • OFD1
  • OFDS 1
  • Oral facial digital syndrome 1
  • Oral facial digital syndrome type 1
More Names
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Symptoms


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What are the signs and symptoms of orofaciodigital syndrome 1 (OFD1)?

Oral features of OFD1 may include a split (lobed) tongue, benign tumors of the tongue, cleft palatehypodontia (missing teeth), or other dental abnormalities. Facial features may include hypertelorism (increased width between the eyes), a small nose, micrognathia (small jaw) and other features. The fingers and toes may be short (brachydactyly), webbed or joined together (syndactyly), abnormally curved (clinodactyly), or have other abnormalities. There may be brain abnormalities (such as cysts) and kidney problems (such as polycystic kidney disease). About half of individuals with OFD1 have some degree of learning disability, which is usually mild. Almost all individuals with OFD1 are female.[1]
Last updated: 11/17/2010

References
  1. Helga V Toriello, Brunella Franco. Oral-Facial-Digital Syndrome Type 1. GeneReviews. October 14, 2010; http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=ofd1. Accessed 11/10/2010.