Tessier number 4 facial cleft
- Type
- Morphological anomaly
- Group
- Disorder
- Inheritance
- Unknown
- Age of onset
- Antenatal, Neonatal
- Status
- active
A rare oblique facial cleft characterized by a congenital unilateral or bilateral oculo-facial defect beginning at the upper lip lateral to the Cupid's bow, then running lateral to the nasal wing, to the lower eyelid lateral to the inferior punctum. Involvement of the facial skeleton begins between the lateral incisors and the canine tooth, involving the maxillary sinus, and ending at the infraorbital rim. Variable involvement of the eye can result in micro- or even anophthalmus.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Tessier number 4 facial cleft | |
| fr | Fente faciale 4 de Tessier | |
| de | Gesichtsspalte, Tessier 4 | |
| es | Hendidura facial número 4 de Tessier | |
| it | Schisi facciale di Tessier numero 4 | |
| nl | Aangezichtsspleet Tessier nummer 4 | |
| pt | Fenda facial número 4 de Tessier | |
| pl | Rozszczep twarzy numer 4 wg Tessiera | |
| cs | Rozštěp obličeje číslo 4 dle Tessiera | |
| uk | Розщілина обличчя Тессьє №4 | |
| zh | Tessier 4型面裂 | |
| tr | Tessier 4 numaralı yüz yarığı |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 600251 | E | validated | |
| ICD-10 | Q18.8 | NTBT | attributed | validated |
| ICD-11 | LA51 | NTBT | index | validated |
| MONDO | 0010850 | E | validated | |
| UMLS | C4703420 | 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 (2):
- ORPHA:414726Genetic facial cleft
rare genetic diseases - ORPHA:141253Oblique facial cleft
rare developmental anomalies during embryogenesis; rare surgical maxillo-facial diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| 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
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 2 cases | Worldwide | Case(s) | Validated | 3398011[PMID]_21703590[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_3398011[PMID]_21703590[PMID] |
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/141258
- This record as JSON: /data/d/141258.json