X-linked cleft palate and ankyloglossia

General Information (adopted from Orphanet):

Synonyms, Signs: CPX
Number of Symptoms 6
OrphanetNr: 324601
OMIM Id: 303400
ICD-10: Q35
Q38.1
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: X-linked recessive
X-linked dominant
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Orofacial clefting syndrome
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare maxillo-facial surgical disease
 -Rare otorhinolaryngologic disease

Symptom Information: Sort by abundance 

1
(HPO:0000175) Cleft palate 349 / 7739
2
(HPO:0010296) Ankyloglossia 11 / 7739
3
(HPO:0000193) Bifid uvula 66 / 7739
4
(HPO:0001417) X-linked inheritance 173 / 7739
5
(OMIM) Palatopharyngeal incompetence 2 / 7739
6
(OMIM) Incomplete cleft palate 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM In a British Columbia Indian family, Lowry (1970) found 12 males with incomplete cleft of the secondary palate. In some the cleft was submucous. Palatopharyngeal incompetence was a leading feature. The pedigree pattern suggested X-linked recessive inheritance. The ...
Molecular genetics OMIM Braybrook et al. (2001) identified 6 different missense, splice site, and nonsense mutations in the TBX22 gene (300307.0001-300307.0006) in families segregating X-linked cleft palate and ankyloglossia.

Braybrook et al. (2002) reported 2 additional familial cases of ...