Fuhrmann syndrome
Synonyms: Fibular hypoplasia or aplasia-femoral bowing-oligodactyly syndrome · Fuhrmann-Rieger-de Sousa syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare syndrome with limb reduction defects characterized by severe femoral bowing, aplasia/hypoplasia of the fibula and ulna. Patients may present with poly-, oligo-, clino- and syndactyly. Absence/coalescence of tarsal bones, absence of metatarsals, hypoplasia/aplasia of toes, fingers and fingernails, hypoplasia of pelvis, congenital hip dislocation, short stature and amenorrhea have also been reported.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Fuhrmann syndrome | Fibular hypoplasia or aplasia-femoral bowing-oligodactyly syndrome · Fuhrmann-Rieger-de Sousa syndrome |
| fr | Syndrome de Furhmann | Syndrome d'hypoplasie ou aplasie du péroné-incurvation du fémur-oligodactylie · Syndrome de Fuhrmann-Rieger-de Sousa |
| de | Fuhrmann-Syndrom | Fibula-Hypoplasie - gekrümmter Femur - Oligodaktylie · Fuhrman-Rieger-de-Sousa-Syndrom |
| es | Síndrome de Fuhrmann | |
| it | Sindrome di Fuhrmann | Ipoplasia o aplasia fibulare - incurvamento del femore - oligodattilia · Sindrome di Fuhrmann-Rieger-de Sousa |
| nl | Syndroom van Fuhrmann | Hypoplasie of aplasie van fibula - kromstand van femur - oligodactylie-syndroom · Syndroom van Fuhrmann-Rieger-de Sousa |
| pt | Síndrome Fuhrmann | Síndrome Fuhrmann-Rieger-de Sousa · Síndrome de hipoplasia do perónio ou aplasia-encurvamento da fíbula-oligodactilia |
| pl | Zespół Fuhrmanna | Hipoplazja lub aplazja kości strzałkowej - łukowata kość udowa - oligodaktylia · Zespół Fuhrmanna, Riegera i de Sousa |
| cs | Fuhrmannův syndrom | Syndrom zahrnující fibulární hypoplázii nebo aplázii, ohnutí stehenní kosti a oligodaktylii · Fuhrmann-Riegerové-de Sousaův syndrom · Fuhrmann-Rieger-de Sousaův syndrom |
| uk | Синдром Фурмана | Синдром гіпоплазії або аплазії малогомілкової кістки - викривлення стегна-олігодактилії · Синдром Фурмана-Рігера-де-Суса |
| zh | Fuhrmann综合征 | 腓骨发育不全-股骨侧弓-少指(趾)畸形综合征 |
| tr | Fuhrmann sendromu | Fuhrmann-Rieger-de Sousa sendromu · Fibüler hipoplazi veya aplazi-femoral eğilme-oligodaktili sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 228930 | E | validated | |
| ICD-10 | Q74.8 | NTBT | attributed | validated |
| ICD-11 | LD2F.1Y | NTBT | index | validated |
| MONDO | 0009232 | E | validated | |
| MeSH | C538189 | E | validated | |
| UMLS | C1856728 | E | validated | |
| GARD | 2410 | 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 (4):
- ORPHA:404574Genetic syndrome with limb reduction defects
rare genetic diseases - ORPHA:139039Orofacial clefting syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases; rare otorhinolaryngological diseases; rare surgical maxillo-facial 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.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| WNT7A | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:12786 | ENSG00000154764 | 601570 | 3p25.1 | Wnt family member 7A | 23922166[PMID]_23266637[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 11 cases | Worldwide | Case(s) | Validated | 16826533[PMID]_12868468[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_12868468[PMID]_16826533[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
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2854
- This record as JSON: /data/d/2854.json