FATCO syndrome
Synonyms: Fibular aplasia-tibial campomelia-oligosyndactyly syndrome · Hecht-Scott syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Age of onset
- Antenatal, Neonatal
- Status
- active
A rare, genetic, congenital limb malformation syndrome characterized by unilateral or bilateral fibular aplasia/hypoplasia, tibial campomelia, and lower limb oligosyndactyly involving the lateral rays. Upper limb oligosyndactyly and cleft lip/palate may also be associated.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | FATCO syndrome | Fibular aplasia-tibial campomelia-oligosyndactyly syndrome · Hecht-Scott syndrome |
| fr | Syndrome FATCO | Syndrome d'aplasie fibulaire-campomélie tibiale-oligosyndactylie · Syndrome de Hecht-Scott |
| de | FATCO-Syndrom | Fibula-Aplasie-Tibiale Kampomelie-Oligosyndaktylie-Syndrom · Hecht-Scott-Syndrom |
| es | Síndrome FATCO | Síndrome de Hecht-Scott · Síndrome de aplasia fibular-campomelia tibial-oligosindactilia · Síndrome de defecto transversal en las extremidades-anomalía cardíaca |
| it | Sindrome FATCO | |
| nl | FATCO-syndroom | Aplasie van fibula - tibiale campomelie - oligosyndactylie-syndroom · Syndroom van Hecht-Scott |
| pt | Síndrome FATCO | Síndrome Hecht-Scott · Síndrome de aplasia fibular-campomelia da tíbia-oligosindactilia |
| pl | Wady poprzeczne kończyn - wada serca | Zespół Hecht i Scotta |
| cs | Syndrom zahrnující transverzální defekt končetin a anomálii srdce | Hechtové-Scottův syndrom · Hecht-Scottův syndrom |
| uk | Синдром FATCO | Синдром фібулярної аплазії-кампомелії великогомілкової кістки-олігосиндактилії · Синдром Гехта-Скотта |
| zh | FACTO综合征 | 腓骨发育不全-胫骨弯曲-简单并指综合征 |
| tr | FATCO sendromu | Hecht-Scott sendromu · Fibular aplazi-tibial kampomeli-oligosindaktili sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 246570 | E | validated | |
| ICD-10 | Q87.2 | NTBT | attributed | validated |
| MeSH | C565436 | E | validated | |
| UMLS | C1855499 | E | validated | |
| GARD | 2622 | 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 (3):
- ORPHA:404574Genetic syndrome with limb reduction defects
rare genetic diseases - ORPHA:294959Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases - ORPHA:294955Syndrome with limb reduction defects
rare developmental anomalies during embryogenesis; rare bone diseases
No children.
Codes that Orphanet moved or referred to this one:
- ORPHA:480773OBSOLETE: Fibular aplasia-tibial campomelia-oligosyndactyly syndrome referred to · inactive
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 22 cases | Worldwide | Case(s) | Validated | DOI:10.15520.v3i12.33[OTHER] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_DOI:10.15520.v3i12.33[OTHER] |
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
10 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002991 | Abnormal fibula morphology | |
| HP:0002992 | Abnormality of tibia morphology | |
| HP:0004050 | Absent hand | |
| Frequent (79-30%) | ||
| HP:0001626 | Abnormality of the cardiovascular system | |
| HP:0006101 | Finger syndactyly | |
| HP:0001622 | Premature birth | |
| HP:0002093 | Respiratory insufficiency | |
| HP:0004322 | Short stature | |
| HP:0001171 | Split hand | |
| HP:0008368 | Tarsal synostosis | |
Run the differential on the 3 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2492
- This record as JSON: /data/d/2492.json