Telecanthus-hypertelorism-strabismus-pes cavus syndrome
historical
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Unknown
- Age of onset
- Neonatal
- Status
- historical
A rare multiple congenital anomalies/dysmorphic syndrome characterized by telecanthus, hypertelorism, strabismus, and pes cavus. Facial dysmorphism may also include prominent forehead, epicanthal folds, a mobile soft tissue mass on tip of the nose, hypoplastic philtrum and vermillion border of the thin upper lip. Additional clinical features may include clinodactyly, camptodactyly, bilateral dorsiflexed toes, metatarsus adductus and hallux varus, bilateral posterior dislocation of the radial head, flared metaphyses of the long bones and osteopenia of tubular bones. Bilateral inguinal hernias and penile hypospadias without chordee may also be present. No neurologic signs or motor impairment have been reported. There have been no further descriptions in the literature since 1985.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Telecanthus-hypertelorism-strabismus-pes cavus syndrome | |
| fr | Syndrome de télécanthus-hypertélorisme-strabisme-pied creux | |
| de | Telekanthus-Hypertelorismus-Strabismus-Pes cavus-Syndrom | |
| es | Síndrome de telecanto-hipertelorismo-estrabismo-pie cavo | |
| it | Telecanto - ipertelorismo - strabismo - piede cavo | |
| nl | Telecanthus - hypertelorisme - strabisme - pes cavus-syndroom | |
| pt | Síndrome de telecanto-hipertelorismoestrabismo-pes cavus | |
| pl | Telekantus - hiperteloryzm - zez - stopa wydrążona | |
| cs | Syndrom zahrnující telekantus, hypertelorismus, strabismus a pes cavus | |
| uk | Синдром телеканта-гіпертелоризму-косоокості-pes cavus | |
| zh | 内眦距离过宽-器官间距过远-斜视-高弓足综合征 | |
| tr | Telekantüslü-hipertelorism-şaşılık-pes kavus sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| MONDO | 0017997 | E | validated | |
| UMLS | C2931549 | 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 (4):
- ORPHA:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological diseases - ORPHA:98683Syndromic disorder with strabismus
rare ophthalmic disorders - ORPHA:522520Syndromic genetic disorder with strabismus
rare genetic diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 2 cases | Worldwide | Case(s) | Validated | 3970067[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_3970067[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/3293
- This record as JSON: /data/d/3293.json