DGM (Dutch-German Mennonite)

Inheritance: X-linked
Genes: TBX22

Cleft palate
CPX

Cleft palate
Tongue-tied
Ankyloglossia

Cleft Palate With Ankyloglossia

Clinical Characteristics

General description (for patients):

This disorder is usually found in males who have an incomplete cleft of the soft palate with a splitting of the uvula and a “tied” tongue (ankyloglossia) with limited mobility.  The combined tongue and palate abnormalities may lead to swallowing and talking difficulties.  Even some carrier females have a split palate and uvula, and some males have only the tied-down tongue.

Medical description: 

Cleft palate usually does not occur in a familial pattern but this condition is an exception.  When combined with ankyloglossia, it is often inherited in an X-linked pattern.  A few males have only ankyloglossia, and rare carrier females have only a palatal cleft.  The cleft is often submucosal and can involve the uvula as well.  The major symptoms involve palatopharyngeal incompetence and speech.

Genetics:

This is an X-linked recessive disorder which rarely occurs with a milder expression in carrier females.  A mutation in the TBX22 gene on the X chromosome (Xq12-q21.2) is responsible.  The disorder is found in many populations and has been reported in a large Manitoba Mennonite kindred.

Treatment: 

Not reported but frenulum release might be of benefit in some.

Prognosis: 

Excellent as no other systemic disease or malformations are associated.

Ancillary treatments and support: 

speech therapy

Specialists and specialty centers:

ENT, pediatrician, nutritionist

References:

Gorski, S.M., Adams, K.J., Birch, P.H., Chodirker, B. N. Greenberg, C.R., and Goodfellow, P.J.:  Linkage analysis of X-linked cleft palate and ankyloglossia in Manitoba Mennonite and British Columbia native kindreds.  Hum. Genet. 94: 141-148, 1994.  PMID: 8045560

Braybrook, C., Doudney, K., Marcano, A.C.B., Arnason, A., Bjornsson, A., Patton, M.A., Goodfellow, P.J., Moore, P.J., and Stanier, P.:  The T-box transcription factor gene TBX22 is mutated in X-linked cleft palate and ankyloglossia.  Nature Genet. 29: 179-183, 2001.  PMID: 11559848

Resources:

Cleft Palate Foundation