Cleft palate with ankyloglossia

MedGen UID:: 337096
•Concept ID:: C1844831
•: Disease or Syndrome

Synonym:	Cleft Palate with Ankyloglossia

OMIM®:	300307

Recent clinical studies

Diagnosis

Molecular genetic approaches to the study of human craniofacial dysmorphologies.

Moore GE
Int Rev Cytol 1995;158:215-77. doi: 10.1016/s0074-7696(08)62488-2. PMID: 7721539

See all (1)

Prognosis

X-linked CHARGE-like Abruzzo-Erickson syndrome and classic cleft palate with ankyloglossia result from TBX22 splicing mutations.

Pauws E, Peskett E, Boissin C, Hoshino A, Mengrelis K, Carta E, Abruzzo MA, Lees M, Moore GE, Erickson RP, Stanier P
Clin Genet 2013 Apr;83(4):352-8. Epub 2012 Aug 7 doi: 10.1111/j.1399-0004.2012.01930.x. PMID: 22784330

Mutation analysis of TBX22 reveals new mutation in Tunisian CPX family.

Chaabouni M, Smaoui N, Benneji N, M'rad R, Jemaa LB, Hachicha S, Chaabouni H
Clin Dysmorphol 2005 Jan;14(1):23-25. PMID: 15602089

See all (2)

Clinical prediction guides

X-linked CHARGE-like Abruzzo-Erickson syndrome and classic cleft palate with ankyloglossia result from TBX22 splicing mutations.

Mutation analysis of TBX22 reveals new mutation in Tunisian CPX family.

Chaabouni M, Smaoui N, Benneji N, M'rad R, Jemaa LB, Hachicha S, Chaabouni H
Clin Dysmorphol 2005 Jan;14(1):23-25. PMID: 15602089

Craniofacial expression of human and murine TBX22 correlates with the cleft palate and ankyloglossia phenotype observed in CPX patients.

Braybrook C, Lisgo S, Doudney K, Henderson D, Marçano AC, Strachan T, Patton MA, Villard L, Moore GE, Stanier P, Lindsay S
Hum Mol Genet 2002 Oct 15;11(22):2793-804. doi: 10.1093/hmg/11.22.2793. PMID: 12374769

See all (3)

MedGen

National Center for Biotechnology Information

Send to:

Cleft palate with ankyloglossia

Recent clinical studies

Diagnosis

Prognosis

Clinical prediction guides

Supplemental Content

Table of contents

Genetic Testing Registry

Clinical resources

Consumer resources

Reviews

Related information

Recent activity