Van der Woude syndrome
Van Der Woude syndrome is a genetic disorder
Genetic disorder
A genetic disorder is an illness caused by abnormalities in genes or chromosomes, especially a condition that is present from before birth. Most genetic disorders are quite rare and affect one person in every several thousands or millions....

 and congenital malformation. People with VDWS have cleft lip with or without cleft palate, pits or mucous
In vertebrates, mucus is a slippery secretion produced by, and covering, mucous membranes. Mucous fluid is typically produced from mucous cells found in mucous glands. Mucous cells secrete products that are rich in glycoproteins and water. Mucous fluid may also originate from mixed glands, which...

A cyst is a closed sac, having a distinct membrane and division on the nearby tissue. It may contain air, fluids, or semi-solid material. A collection of pus is called an abscess, not a cyst. Once formed, a cyst could go away on its own or may have to be removed through surgery.- Locations :* Acne...

s on the lower lip
Lips are a visible body part at the mouth of humans and many animals. Lips are soft, movable, and serve as the opening for food intake and in the articulation of sound and speech...

, hypodontia
In dentistry, hypodontia is the condition at which the patient has missing teeth as a result of their failure to develop. Hypodontia describes a situation where the patient is missing up to 6 teeth, excluding the 3rd molars. Missing third molars occur in 9-30% of population...

, a hypernasal voice, cleft or bifid uvula, syngnathia, narrow high arched palate, and ankyloglossia. Extraoral manifestations include limb anomalies, popliteal webs, accessory nipples, congenital heart defects, and Hirschsprung disease. However, Van der Woude syndrome has variable phenotypic expression. For example, some individuals affected by Van der Woude syndrome have isolated lip pits without any cleft syndrome. Affected individuals have normal intelligence. Ongoing research is being conducted to discover the genes involved in causing Van der Woude syndrome. A mutation in the gene IRF6 (interferon regulatory factor 6) has recently been discovered to be strongly associated with the disorder.

VDWS is the most common syndromic
In medicine and psychology, a syndrome is the association of several clinically recognizable features, signs , symptoms , phenomena or characteristics that often occur together, so that the presence of one or more features alerts the physician to the possible presence of the others...

 form of cleft lip and palate (CLP), accounting for 2% of all cleft lip and palate cases. Approximately 70% of cases of CLP are isolated, meaning that there are no other health issues present. However, cases of CLP with Van der Woude syndrome are considered syndromic because the individuals exhibit other abnormalities in addition to the cleft lip/palate. Van der Woude syndrome was first characterized in 1954.


VDWS is an autosomal dominant or sporadic inheritance caused by mutation
In molecular biology and genetics, mutations are changes in a genomic sequence: the DNA sequence of a cell's genome or the DNA or RNA sequence of a virus. They can be defined as sudden and spontaneous changes in the cell. Mutations are caused by radiation, viruses, transposons and mutagenic...

s of the IRF6
Interferon regulatory factor 6 also known as IRF6 is a protein that in humans is encoded by the IRF6 gene.-Function:This gene encodes a member of the interferon regulatory transcription factor family...

A gene is a molecular unit of heredity of a living organism. It is a name given to some stretches of DNA and RNA that code for a type of protein or for an RNA chain that has a function in the organism. Living beings depend on genes, as they specify all proteins and functional RNA chains...

, located on chromosome 1 at 1q32-q41. (Popliteal pterygium syndrome
Popliteal pterygium syndrome
Popliteal pterygium syndrome is an inherited condition affecting the face, limbs, and genitalia. The syndrome goes by a number of names including the popliteal web syndrome and, more inclusively, the facio-genito-popliteal syndrome...

can also be caused by mutations of this gene.)

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