ORPHA:1986
Gollop-Wolfgang complex
Synonyms: Bifid femur-monodactylous ectrodactyly syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant, Autosomal recessive
- Age of onset
- Antenatal, Neonatal
- Status
- active
A rare congenital limb malformation characterized by bifid femur, absent or hypoplastic tibia and ulna with limb shortening, oligodactyly, and ectrodactyly.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Gollop-Wolfgang complex | Bifid femur-monodactylous ectrodactyly syndrome |
| fr | Complexe de Gollop-Wolfgang | Syndrome de fémur bifide-ectrodactylie monodactyle |
| de | Gollop-Wolfgang-Komplex | Femur, gegabelter - Ektrodaktylie - Monodaktylie |
| es | Complejo de Gollop-Wolfgang | Femur bífido-ectrodactilia monodactilia |
| it | Complesso di Gollop-Wolfgang | Femore bifido - ectrodattilia - monodattilia |
| nl | Gollop-Wolfgangcomplex | Femur bifurcatie - monodactyleuze ectrodactylie |
| pt | Complexo Gollop-Wolfgang | Fémur bífido com ectrodactilia · Síndrome de fémur bifido unilateral-ectrodactilia monodactilosa |
| pl | Kompleks Gollopa i Wolfganga | Rozszczep kości udowej - ektrodaktylia jednopalcowa |
| cs | Gollopův-Wolfgangův komplex | Syndrom zahrnující rozštěp femuru a monodaktylní ektrodaktylii · Gollop-Wolfgangův komplex |
| uk | Комплекс Голлоп-Вольфганга | Синдром біфідемічної стегново-монодактильної ектродактилії |
| zh | Gollop-Wolfgang综合征 | 股骨裂-单指（趾）缺指（趾）综合征 |
| tr | Gollop-Wolfgang kompleksi | Bifid femur-monodaktilöz ektrodaktili sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 228250 | E | validated | |
| ICD-10 | Q74.8 | NTBT | attributed | validated |
| ICD-11 | LD26.0 | NTBT | index | validated |
| MONDO | 0009222 | E | validated | |
| MeSH | C537917 | E | validated | |
| UMLS | C1856789 | E | validated | |
| GARD | 2285 | E | validated | |
| MedDRA | 10079731 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (5):
- ORPHA:294957Dysostosis with combined reduction defects of upper and lower limbs
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases - ORPHA:498477Ectrodactyly with and without other manifestations
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases - 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.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| BHLHA9 | Role in the phenotype of | Assessed | HGNC:35126 | ENSG00000205899 | 615416 | 17p13.3 | basic helix-loop-helix family member a9 | 25351291[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 200 cases | Worldwide | Case(s) | Validated | ORPHANET_[EXPERT] | |
| Point prevalence | 1-9 / 1 000 000 | 0.1 / 100 000 | Worldwide | Value and class | Validated | 40278527[PMID]_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.
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HPO phenotypes
5 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0005772 | Aplasia/Hypoplasia of the tibia | |
| HP:0010443 | Bifid femur | |
| HP:0100257 | Ectrodactyly | |
| HP:0004058 | Hand monodactyly | |
| Frequent (79-30%) | ||
| HP:0006495 | Aplasia/Hypoplasia of the ulna | |
Run the differential on the 4 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1986
- This record as JSON: /data/d/1986.json