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Zpráva o onemocněních · Oral

Van der Woude and Popliteal Pterygium Syndromes (IRF6)

Whole genome sequencing reads the IRF6 gene for inherited changes that cause cleft lip or palate and lip pits, and in some people webbing behind the knees and other differences.

Zpráva o onemocněních hledá vzácné varianty, o nichž je známo, že způsobují onemocnění, na něž se zpráva zaměřuje.

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O tomto condition

Related inherited conditions causing cleft lip and/or palate and small pits in the lower lip; the popliteal pterygium form also includes webbing behind the knees and other differences. Both are caused by a change in one copy of the IRF6 gene.

Van der Woude and popliteal pterygium syndromes are related inherited conditions that affect the face, skin and genitals. Van der Woude syndrome is the most common form, and it causes small pits or mounds in the lower lip, often with cleft lip or palate. It affects about 1 in 35,000 live births. Popliteal pterygium syndrome adds webbing of skin behind the knees, webbed fingers or toes, nail changes and genital differences.

Both are caused by a change in one copy of IRF6, a transcription factor needed for development of the face, skin and genitals. The features form a spectrum, from isolated cleft lip and palate at the mild end to popliteal pterygium syndrome at the more severe end. Growth and intelligence are typically normal.

Care is led by a cleft team, with surgery for clefts and lip pits and speech, dental and hearing support. Children of an affected person have a 1 in 2 chance of inheriting the change, though features may differ, so genetic counselling and family testing are offered.

Onemocnění, které analyzujeme

IRF6-Related Disorders

Autozomálně dominantní · Van der Woude syndrome affects about 1 in 35,000 live births.

Caused by a change in one copy of IRF6, a transcription factor needed for development of the face, skin and genitals. Features form a spectrum, from isolated cleft lip and palate and Van der Woude syndrome at the mild end to popliteal pterygium syndrome at the more severe end.

Příznaky a projevy

Van der Woude syndrome is the most common form, with pits or mounds in the lower lip and cleft lip, cleft palate or both; some have missing teeth. Popliteal pterygium syndrome adds webbing of skin behind the knees, webbed fingers or toes, nail changes and genital differences. Less often there are bands of tissue joining the eyelids or the jaws.

Co se diagnózou změní

Care is led by a cleft team, with surgery for clefts and lip pits, and speech, dental and hearing support. Children of an affected person have a 1 in 2 chance of inheriting the change, though features may differ, so genetic counselling and family testing are offered.

Analyzované geny

Zahrnuje 7 příbuzných podtypů ↓
  • autosomal dominant popliteal pterygium syndrome
  • Bartsocas-Papas syndrome 1
  • Bartsocas-Papas syndrome 2
  • popliteal pterygium syndrome
  • van der Woude syndrome
  • van der Woude syndrome 1
  • van der Woude syndrome 2
MONDO:1040010Zdroje: [1][2][3]

Proč sekvenování celého genomu

IRF6 changes are inherited in a dominant way, so a family's result can help relatives understand their risk. Whole genome sequencing reads the IRF6 gene.

Relatives may inherit the change

Most people with an IRF6 change inherited it from a parent who may or may not show features. If a parent is affected or carries the change, the risk to each sibling is 50%.

A negative result does not rule it out

Some people with Van der Woude syndrome have changes in GRHL3 rather than IRF6, which this report does not cover, so a negative IRF6 result does not rule the condition out. People with clefts also need regular hearing, speech and dental checks.

Omezení

  • Some people with Van der Woude syndrome have changes in GRHL3 rather than IRF6, which this report does not cover, so a negative result does not rule out the condition.

Reference

  1. Schutte BC, Saal HM, Goudy S, Leslie EJ, 2003. IRF6-Related Disorders. GeneReviews
  2. Van der Woude syndrome. MedlinePlus Genetics
  3. Robinson K, Singh SK, Walkup RB, Fawwal DV, Vilfort KM, Koloskee A et al., 2025. Rare variants in PRKCI cause Van der Woude syndrome and other features of peridermopathy. American journal of human genetics

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