ORPHA:2639
Fibular aplasia-complex brachydactyly syndrome
Synonyms: Du Pan syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Antenatal, Neonatal
- Status
- active
A rare syndrome characterised by severe reduction or absence of the fibula and complex brachydactyly. Less than 30 cases have been described in the literature so far. The syndrome is inherited in an autosomal recessive manner and is caused by mutations in the cartilage-derived morphogenetic protein-1 gene (<i>GDF5</i>).
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Fibular aplasia-complex brachydactyly syndrome | Du Pan syndrome |
| fr | Syndrome d'aplasie du péroné-brachydactylie | Syndrome de Du Pan |
| de | Syndrom der Fibula-Aplasie mit komplexer Brachydaktylie | Du Pan-Syndrom |
| es | Síndrome de aplasia del peroné-braquidactilia compleja | Síndrome de Du Pan |
| it | Aplasia del perone - brachidattilia | Sindrome di Du Pan |
| nl | Fibula-aplasie - complexe brachydactylie-syndroom | Syndroom van Du Pan |
| pt | Síndrome de aplasia do perónio-complexo braquidactilia | Síndrome Du Pan |
| pl | Aplazja kości strzałkowej - złożona brachydaktylia | Zespół Du Pan |
| cs | Syndrom zahrnující fibulární aplázii a komplexní brachydaktylii | Du Panův syndrom |
| uk | Синдром фібулярної аплазії-комплексної брахідактилії | Синдром Дюпана |
| zh | 腓骨发育不全-复杂短指综合征 | Du Pan综合征 |
| tr | Fibüler aplazi-kompleks brakidaktili sendromu | Du Pan sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 228900 | E | validated | |
| ICD-10 | Q73.8 | NTBT | attributed | validated |
| ICD-11 | LD26.0 | NTBT | index | validated |
| MONDO | 0009231 | E | validated | |
| MONDO | 9231 | E | validated | |
| MeSH | C537931 | E | validated | |
| UMLS | C1856738 | E | validated | |
| GARD | 9879 | 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 (3):
- ORPHA:93437Acromesomelic dysplasia
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases - ORPHA:404574Genetic syndrome with limb reduction defects
rare genetic diseases - ORPHA:294955Syndrome with limb reduction defects
rare developmental anomalies during embryogenesis; rare bone diseases
No children.
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Genes
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| GDF5 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:4220 | ENSG00000125965 | 601146 | 20q11.22 | growth differentiation factor 5 | 16222676[PMID] |
| BMPR1B | Disease-causing germline mutation(s) in | Assessed | HGNC:1077 | ENSG00000138696 | 603248 | 4q22.3 | bone morphogenetic protein receptor type 1B | 26105076[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 16 cases | Worldwide | Case(s) | Validated | 37064338[PMID]_2624264[PMID]_2363425[PMID]_16222676[PMID]_18629880[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 37064338[PMID]_2624264[PMID]_2363425[PMID]_16222676[PMID]_18629880[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
15 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002818 | Abnormal morphology of the radius | |
| HP:0040071 | Abnormal morphology of ulna | |
| HP:0001172 | Abnormal thumb morphology | |
| HP:0005930 | Abnormality of epiphysis morphology | |
| HP:0003272 | Abnormality of the hip bone | |
| HP:0002992 | Abnormality of tibia morphology | |
| HP:0006492 | Aplasia/Hypoplasia of the fibula | |
| HP:0007598 | Bilateral single transverse palmar creases | |
| HP:0001156 | Brachydactyly | |
| HP:0001376 | Limitation of joint mobility | |
| HP:0002983 | Micromelia | |
| HP:0000446 | Narrow nasal bridge | |
| HP:0004322 | Short stature | |
| HP:0005048 | Synostosis of carpal bones | |
| HP:0008368 | Tarsal synostosis | |
Run the differential on the 12 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2639
- This record as JSON: /data/d/2639.json