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Condition report · Oral

Hereditary Cleft Lip and Palate

Inherited forms of cleft lip and/or cleft palate caused by single genes, including van der Woude syndrome, the most common genetic cause of cleft lip and palate. Features can vary widely within a family, from a full cleft to only small pits in the lower lip or missing teeth.

A condition report looks for rare variants known to cause the conditions it covers.

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The 6 conditions we analyse

Van der Woude Syndrome

Autosomal dominant

Cleft lip and/or palate together with pits in the lower lip, usually caused by IRF6 variants and less often by GRHL3 variants, with incomplete penetrance and variable features.

What a diagnosis changes

Knowing can inform recurrence risk, which is up to 50% for each child, and support early surgical and dental planning.

Genes analysed

Also known as

cleft lip and/or palate with mucous cysts of lower lip; cleft lip/palate with mucous cysts of lower lip; lip pit syndrome; LPS; VWS

Includes 2 related subtypes ↓
  • van der Woude syndrome 1
  • van der Woude syndrome 2
MONDO:0019508Orphanet 888MedGen 61233

GRHL3-related Orofacial Clefting

Autosomal dominant

Cleft palate, sometimes with other features of van der Woude syndrome, caused by variants in the GRHL3 gene.

Genes analysed

MONDO:0100579

ARHGAP29-related Non-syndromic Orofacial Cleft

Autosomal dominant

Cleft lip with or without cleft palate, without other syndromic features, caused by variants in the ARHGAP29 gene.

Genes analysed

MONDO:1060132

X-linked Cleft Palate with or without Ankyloglossia

Cleft palate and/or tongue-tie caused by variants in the TBX22 gene on the X chromosome, usually more severe in males.

Genes analysed

Also known as

cleft palate with ankyloglossia; cleft palate X-linked; CPX; X-linked cleft palate and ankyloglossia

MONDO:0010560OMIM 303400Orphanet 324601MedGen 375520

Orofacial Cleft 5 (MSX1-related)

Autosomal dominant

Cleft lip and/or palate, sometimes with missing teeth, caused by variants in the MSX1 gene.

Genes analysed

Also known as

MSX1 orofacial cleft; OFC5; orofacial cleft caused by mutation in MSX1; orofacial cleft type 5

MONDO:0012142OMIM 608874MedGen 373280

Orofacial Cleft 11 (BMP4-related)

Autosomal dominant

Cleft lip and/or palate caused by variants in the BMP4 gene.

Genes analysed

Also known as

BMP4 orofacial cleft; OFC11; orofacial cleft caused by mutation in BMP4; orofacial cleft type 11

MONDO:0010906OMIM 600625MedGen 436944

Limitations

  • Whole-gene or exon deletions of IRF6, including deletions at 1q32, need copy-number analysis and may not be detected.
  • Some IRF6-related clefting is caused by variants in regulatory regions outside the gene, which are difficult to detect and interpret.

Other oral conditions

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