Extensor tendons of finger anomalies
historical
Synonyms: Hapnes-Boman-Skeie syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Age of onset
- Neonatal
- Status
- historical
Extensor tendons of finger anomalies is a rare, genetic, congenital limb malformation characterized by bilateral anomalous attachment of the extensor tendons of the four ulnar fingers. Attachment occurrs to the medial and lateral aspects of the middle phalanges leading to constant flexion in the midphalangeal joints and inability to extend the fingers. There have been no further descriptions in the literature since 1980.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Extensor tendons of finger anomalies | Hapnes-Boman-Skeie syndrome |
| fr | Anomalie des tendons extenseurs des doigts | Syndrome de Hapnes-Boman-Skeie |
| de | Anomalien der Fingerstrecksehnen | Hapnes-Boman-Skeie-Syndrom |
| es | Anomalía de los tendones extensores de los dedos de las manos | Síndrome de Hapnes-Boman-Skeie |
| it | Anomalia dei tendini estensori delle dita | Sindrome di Hapnes-Boman-Skeie |
| nl | Anomalieën van extensorpezen van vinger | Anomalieën van strekpezen van vinger · Syndroom van Hapnes-Boman-Skeie |
| pt | Anomalias dos tendões extensores dos dedos | Síndrome Hapnes-Boman-Skeie |
| pl | Wydłużone ścięgna palców | Zespół Hapnesa, Bomana i Skeie |
| cs | Anomálie extenzorů šlach prstů | Hapnesův-Bomanův-Skeieův syndrom · Hapnes-Boman-Skeieův syndrom |
| uk | Аномалії сухожилля розгиначів пальців | Синдром Гапнеса-Бомана-Скейє |
| zh | 指伸肌腱异常 | Hapnes-Boman-Skeie综合征 |
| tr | Parmak anomalilerinin ekstansör tendonları | Hapnes-Boman-Skeie sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 187390 | E | validated | |
| ICD-10 | Q74.0 | NTBT | attributed | validated |
| MONDO | 0008540 | E | validated | |
| MeSH | C536960 | E | validated | |
| UMLS | C2931376 | E | validated | |
| GARD | 2597 | 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:404577Genetic syndrome with limb malformations as a major feature
rare genetic diseases - ORPHA:109009Syndrome with limb malformations as a major feature
rare developmental anomalies during embryogenesis
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 | 7363507[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_7363507[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
6 annotations · validated 2017-09-14| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0100490 | Camptodactyly of finger | |
| HP:0001012 | Multiple lipomas | |
| HP:0000991 | Xanthomatosis | |
| Frequent (79-30%) | ||
| HP:0001376 | Limitation of joint mobility | |
| HP:0000939 | Osteoporosis | |
| HP:0003202 | Skeletal muscle atrophy | |
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/3294
- This record as JSON: /data/d/3294.json