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Popliteal Pterygium Syndrome

Reference work entry

In 1968, Gorlin et al. described an autosomal dominant form of popliteal pterygium syndrome (PPS), a syndrome comprising cleft lip and palate, popliteal and intercrural pterygia, and digital and genital anomalies. Van der Woude syndrome (VWS) is one of the most common oral cleft syndromes. It accounts for about 2% of all cleft lip and palate cases. Both syndromes are caused by IRF6 mutations.

In 1972, Bartsocas and Papas reported on four sibs of third-cousin parents with a severe, presumably autosomal recessive form of popliteal pterygium syndrome.

Synonyms and Related Disorders

Bartsocas-Papas syndrome; IRF6-Related Disorders including Van der Woude syndrome

Genetics/Basic Defects

  1. 1.

    Interferon regulatory factor 6 (IRF6) encodes a member of the IRF family of transcription factors (de Lima et al. 2009)

     
  2. 2.

    Mutations in IRF6 cause popliteal pterygium syndrome and Van der Woude syndrome.

     
  3. 3.
    Popliteal pterygium syndrome
    1. a.

      Inherited as an autosomal dominant trait

       
    2. b.

      Exonic mutations...

Keywords

Cleft Palate Preimplantation Genetic Diagnosis Ischial Tuberosity Fibrous Band Oral Cleft 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

References

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