Orofaciodigital syndrome 1

Common Name(s)

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.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Orofaciodigital syndrome 1" for support, advocacy or research.

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Orofaciodigital syndrome 1" returned 1 free, full-text research articles on human participants. First 3 results:

Novel mutations including deletions of the entire OFD1 gene in 30 families with type 1 orofaciodigital syndrome: a study of the extensive clinical variability.
 

Author(s): Izak J Bisschoff, Christine Zeschnigk, Denise Horn, Brigitte Wellek, Angelika Rieß, Maja Wessels, Patrick Willems, Peter Jensen, Andreas Busche, Jens Bekkebraten, Maya Chopra, Hanne Dahlgaard Hove, Christina Evers, Ketil Heimdal, Ann-Sophie Kaiser, Erdmut Kunstmann, Kristina Lagerstedt Robinson, Maja Linné, Patricia Martin, James McGrath, Winnie Pradel, Katrina E Prescott, Bernd Roesler, Gorazd Rudolf, Ulrike Siebers-Renelt, Nataliya Tyshchenko, Dagmar Wieczorek, Gerhard Wolff, William B Dobyns, Deborah J Morris-Rosendahl

Journal: Hum. Mutat.. 2013 Jan;34(1):237-47.

 

OFD1, now recognized as a ciliopathy, is characterized by malformations of the face, oral cavity and digits, and is transmitted as an X-linked condition with lethality in males. Mutations in OFD1 also cause X-linked Joubert syndrome (JBTS10) and Simpson-Golabi-Behmel syndrome type ...

Last Updated: 31 Dec 1969

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The terms "Orofaciodigital syndrome 1" returned 0 free, full-text review articles on human participants.

 
 
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