Acropectorovertebral dysplasia
Synonyms: F syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Antenatal, Neonatal
- Status
- active
A rare genetic skeletal dysplasia characterized by carpal and tarsal synostoses (synostoses between capitate and hamate, and between talus and navicular are always present, other carpal and tarsal bones are sometimes incorporated into the fusion), syndactyly between the first and second fingers, hypodactyly and polydactyly of feet and acral defects that may involve the sternum and the lumbosacral spine (including prominent sternum with variable pectus excavatum and lumbosacral spina bifida occulta). Soft tissue syndactyly, dental hypoplasia/dysplasia, wide alveolar ridge and high and narrow palate have also been reported in some patients.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Acropectorovertebral dysplasia | F syndrome |
| fr | Dysplasie acropectorovertébrale | Syndrome F · Dysgénésie acro-pectoro-vertébrale |
| de | Dysplasie, akro-pectoro-vertebrale | F-Syndrom |
| es | Displasia acropectorovertebral | Síndrome F |
| it | Displasia acro-toraco-vertebrale | Disgenesia acro-toraco-vertebrale · Sindrome F |
| nl | Acropectorovertebrale dysplasie | F-syndroom |
| pt | Displasia acro-pecto-vertebral | |
| pl | Dysplazja kończynowo-piersiowo-kręgowa | Zespół F |
| cs | Akropektorovertebrální dysplázie | F syndrom |
| uk | Акропекторовертебральна дисплазія | F-синдром |
| zh | 肩胛脊柱发育不良 | F综合征 |
| tr | Akropektovertebral displazi | F sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 102510 | E | validated | |
| ICD-10 | Q74.8 | NTBT | attributed | validated |
| ICD-11 | LD26.2 | NTBT | index | validated |
| MONDO | 0007058 | E | validated | |
| MeSH | C566319 | E | validated | |
| UMLS | C1863307 | E | validated | |
| GARD | 512 | 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:294959Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases - ORPHA:182108Thoracic malformation
rare respiratory 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 | 30 cases | Worldwide | Case(s) | Validated | ORPHANET | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | 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
12 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0011304 | Broad thumb | |
| HP:0006101 | Finger syndactyly | |
| HP:0000767 | Pectus excavatum | |
| HP:0009882 | Short distal phalanx of finger | |
| HP:0005048 | Synostosis of carpal bones | |
| HP:0008368 | Tarsal synostosis | |
| HP:0001199 | Triphalangeal thumb | |
| Frequent (79-30%) | ||
| HP:0001256 | Intellectual disability, mild | |
| HP:0002414 | Spina bifida | |
| Occasional (29-5%) | ||
| HP:0100490 | Camptodactyly of finger | |
| HP:0000175 | Cleft palate | |
| HP:0002705 | High, narrow palate | |
Run the differential on the 7 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/957
- This record as JSON: /data/d/957.json