Tessier number 7 facial cleft
Synonyms: Commissural facial cleft · Transverse facial cleft
- Type
- Morphological anomaly
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Antenatal, Neonatal
- Status
- active
A rare lateral facial cleft characterized by a temporo-zygomatic defect, usually with absence of the zygomatic arch and deformities of the mandibular ramus, condyle, and coronoid process. Associated soft tissue abnormalities include malformations of the ear and hypoplasia or absence of the temporal muscle. Preauricular hair may be absent or divided into two portions. Facial manifestations include macrostomia (with extension of the cleft to the corner of the mouth) and pre-auricular tags. Incomplete clefts may be found in the molar region and between the maxillary tuberosity and pterygoid process.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Tessier number 7 facial cleft | Commissural facial cleft · Transverse facial cleft |
| fr | Fente faciale 7 de Tessier | Fente faciale commissurale · Fente faciale transverse |
| de | Gesichtsspalte, Tessier 7 | Gesichtsspalte, kommissurale · Gesichtsspalte, transversale · Makrostomie |
| es | Hendidura facial número 7 de Tessier | Hendidura facial en la comisura · Hendidura facial transversal |
| it | Schisi facciale di Tessier numero 7 | Schisi facciale commissurale · Schisi facciale trasversale |
| nl | Aangezichtsspleet Tessier nummer 7 | Commissurale aangezichtsspleet · Transversale aangezichtsspleet |
| pt | Fenda facial Tessier número 7 | Fenda facial comissural · Fenda facial transversa |
| pl | Spoidłowy rozszczep twarzy | Makrostomia · Rozszczep twarzy nr 7 wg klasyfikacji Tessiera |
| cs | Faciální rozštěp dle Tessiera číslo 7 | Makrostomie |
| uk | Розщілина обличчя Тессьє №7 | Спайкова розщілина обличчя · Поперечна розщілина обличчя |
| zh | Tessier 7型面裂 | 联合性面裂 |
| tr | Tessier 7 numaralı yüz yarığı | Makrostomi · Enine fasiyal yarık · Komissural fasiyal yarık |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 613545 | E | validated | |
| ICD-10 | Q18.4 | NTBT | attributed | validated |
| ICD-11 | LA51 | NTBT | index | validated |
| MONDO | 0013300 | E | validated | |
| UMLS | C4552111 | 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:141269Lateral facial cleft
rare developmental anomalies during embryogenesis; rare genetic diseases; rare surgical maxillo-facial diseases
No children.
Genes
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| PTCH2 | Disease-causing germline mutation(s) in | Assessed | HGNC:9586 | ENSG00000117425 | 603673 | 1p34.1 | patched 2 | 19208383[PMID] |
| SPECC1L | Disease-causing germline mutation(s) in | Assessed | HGNC:29022 | ENSG00000100014 | 614140 | 22q11.23 | sperm antigen with calponin homology and coiled-coil domains 1 like | 21703590[PMID] |
Prevalence and incidence
0 recordsNo prevalence record in this release.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/141276
- This record as JSON: /data/d/141276.json