X-linked cleft palate and ankyloglossia
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- X-linked dominant, X-linked recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
X-linked cleft palate and ankyloglossia is a rare, genetic developmental defect during embryogenesis syndrome characterized by the association of complete, partial or submucous cleft palate and ankyloglossia. Patients may also present abnormal uvula (e.g. absent, bifid, shortened or laterally deviated), short lingual frenulum and dental anomalies (e.g. buccal crossbite, absent and/or misshapen teeth). Digital abnormalities, such as mild clinodactyly and/or syndactyly, have also been reported.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | X-linked cleft palate and ankyloglossia | |
| fr | Fente palatine et ankyloglossie liées à l'X | |
| de | X-chromosomale Gaumenspalte mit Ankyloglossie | |
| es | Paladar hendido y anquiloglosia ligados al cromosoma X | |
| it | Palatoschisi e anchiloglossia legate all'X | |
| nl | X-gebonden palatoschisis en ankyloglossie | X-gebonden gespleten verhemelte en ankyloglossie |
| pt | Fenda palatina e anquiloglossia ligada ao X | |
| pl | Rozszczep podniebienia i ankyloglosja sprzężone z chromosomem X | |
| cs | X-vázaný rozštěp patra s ankyloglosií | |
| uk | Х-зчеплена розщілина піднебіння та анкілоглосія | |
| zh | X连锁腭裂与舌系带短缩 | |
| tr | X'e bağlı yarık damak ve ankiloglosi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 303400 | NTBT | validated | |
| ICD-10 | Q38.6 | NTBT | attributed | validated |
| MONDO | 10560 | E | validated | |
| UMLS | C4707825 | E | validated | |
| GARD | 1394 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:139039Orofacial clefting syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases; rare otorhinolaryngological diseases; rare surgical maxillo-facial diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| TBX22 | Disease-causing germline mutation(s) in | Assessed | HGNC:11600 | ENSG00000122145 | 300307 | Xq21.1 | T-box transcription factor 22 | 11559848[PMID]_12374769[PMID]_14729838[PMID] |
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/324601
- This record as JSON: /data/d/324601.json