What is the definition of Orofaciodigital Syndrome 1?

Orofaciodigital syndrome 1 (OFD1), also called orofaciodigital syndrome type 1, is a condition that affects the development of the oral cavity (the mouth and teeth), facial features, and digits (fingers and toes). This condition also causes polycystic kidney disease. Orofaciodigital syndrome 1 is caused by a change (mutation) in a gene called OFD1 which appears to play an important role in the early development of many parts of the body including the brain, face, limbs, and kidneys. The syndrome is inherited in an X-linked dominant pattern. The diagnosis of OFD1 is sometimes made at birth, but it may be suspected only after polycystic kidney disease is found in later childhood or adulthood. Treatment for OFD1 typically focuses on the symptoms an individual has and may include surgery for cleft lip or palate , other oral abnormalities, or syndactyly (webbing of the fingers or toes). Researchers have identified at least 13 potential forms of orofaciodigital syndromes, which are classified by their patterns of signs and symptoms. OFD1 is the most common form of orofaciodigital syndrome and differs from the other types mainly by its association with polycystic kidney disease.

What are the alternative names for Orofaciodigital Syndrome 1?

  • OFD1
  • OFD syndrome 1
  • Oral-facial-digital syndrome type 1
  • Papillon-League-Psaume syndrome (formerly)
  • Orofaciodigital syndrome I
  • Oral-facial-digital syndrome 1
  • Oral facial digital syndrome 1
  • Oral facial digital syndrome type 1
  • OFDS 1

What are the symptoms for Orofaciodigital Syndrome 1?

Oral features of OFD1 may include a split (lobed) tongue, benign tumors of the tongue, cleft palate, hypodontia (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.

How is Orofaciodigital Syndrome 1 diagnosed?

Genetic testing for orofaciodigital syndrome 1 is clinically available. OFD1  is the only gene currently known to be associated with this condition. Testing is often used to confirm or establish the diagnosis in an individual when OFD1 is suspected.  A change (mutation) in the OFD1 gene is detected in up to 85% of individuals who have OFD1. 

You can find laboratories offering clinical genetic testing for OFD1 on a website called GeneTests. To see a listing of clinical testing laboratories click here. GeneTests does not currently list laboratories doing research testing for OFD1. 

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