ORPHA:1988
Femoral-facial syndrome
Synonyms: FFS · FHUFS · Femoral hypoplasia-unusual facies syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Antenatal, Neonatal
- Status
- active
A rare syndrome with limb reduction defects characterized by femoral agenesis/hypoplasia (bilateral or unilateral) and recognizable facies.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Femoral-facial syndrome | FFS · FHUFS · Femoral hypoplasia-unusual facies syndrome |
| fr | Syndrome fémoro-facial | FFS · FHUFS · Syndrome d'hypoplasie du fémur-faciès particulier |
| de | Femoral-faziales Syndrom | FFS · FHUFS · Femurhypoplasie - Gesichtsdysmorphie |
| es | Síndrome femoral-facial | FHUFS · SFF · Síndrome hipoplasia femoral- facies inusual |
| it | Sindrome femoro-facciale | FFS · FHUFS · Sindrome ipoplasia femorale-facies caratteristica |
| nl | Femoraal-faciaal syndroom | FFS · FHUFS · Femorale hypoplasie - afwijkend aangezicht-syndroom |
| pt | Síndrome facio-femural | |
| pl | Zespół udowo-twarzowy | FFS · FHUFS · Zespół hipoplazja kości udowej - niezwykły wygląd twarzy |
| cs | Femorofaciální syndrom | FFS · FHUFS · Syndrom zahrnující femorální hypoplázii a neobvyklý obličej |
| uk | Стегново-лицевий синдром | Синдром гіпоплазії стегнової кістки - незвичайного обличчя · FFS · FHUFS |
| zh | 股-面综合征 | 股骨发育不良-特殊面容综合征 |
| tr | Femoral-yüz sendromu | FFS · FHUFS · Femoral hipoplazi-alışılmadık yüz sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 134780 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| ICD-11 | LD2F.1Y | NTBT | index | validated |
| MONDO | 0007604 | E | validated | |
| MeSH | C537916 | E | validated | |
| UMLS | C0265263 | E | validated | |
| GARD | 61 | E | validated | |
| MedDRA | 10083944 | 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:330206Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
rare genetic diseases - ORPHA:404574Genetic syndrome with limb reduction defects
rare genetic diseases - ORPHA:102285Multiple congenital anomalies/dysmorphic syndrome without intellectual disability
rare developmental anomalies during embryogenesis - ORPHA:139039Orofacial clefting syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases; rare otorhinolaryngological diseases; rare surgical maxillo-facial diseases - ORPHA:294955Syndrome with limb reduction defects
rare developmental anomalies during embryogenesis; rare bone diseases
No children.
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Genes
0 directOrphanet records no gene directly on this code.
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 68 cases | Worldwide | Case(s) | Validated | 30070764[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_25210574[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.
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HPO phenotypes
36 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000175 | Cleft palate | |
| HP:0000347 | Micrognathia | |
| HP:0003097 | Short femur | |
| Frequent (79-30%) | ||
| HP:0002991 | Abnormal fibula morphology | |
| HP:0005107 | Abnormal sacrum morphology | |
| HP:0002644 | Abnormality of pelvic girdle bone morphology | |
| HP:0005772 | Aplasia/Hypoplasia of the tibia | |
| HP:0002812 | Coxa vara | |
| HP:0001385 | Hip dysplasia | |
| HP:0000343 | Long philtrum | |
| HP:0000369 | Low-set ears | |
| HP:0009800 | Maternal diabetes | |
| HP:0008551 | Microtia | |
| HP:0000202 | Orofacial cleft | |
| HP:0001841 | Preaxial foot polydactyly | |
| HP:0003196 | Short nose | |
| HP:0004322 | Short stature | |
| HP:0001762 | Talipes equinovarus | |
| HP:0000219 | Thin upper lip vermilion | |
| HP:0000582 | Upslanted palpebral fissure | |
| HP:0003422 | Vertebral segmentation defect | |
| Occasional (29-5%) | ||
| HP:0030680 | Abnormal cardiovascular system morphology | |
| HP:0100542 | Abnormal localization of kidney | |
| HP:0000772 | Abnormal rib morphology | |
| HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | |
| HP:0000028 | Cryptorchidism | |
| HP:0000023 | Inguinal hernia | |
| HP:0000040 | Long penis | |
| HP:0000113 | Polycystic kidney dysplasia | |
| HP:0002974 | Radioulnar synostosis | |
| HP:0008678 | Renal hypoplasia/aplasia | |
| HP:0000902 | Rib fusion | |
| HP:0002650 | Scoliosis | |
| HP:0000912 | Sprengel anomaly | |
| HP:0000486 | Strabismus | |
| HP:0002119 | Ventriculomegaly | |
Run the differential on the 3 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1988
- This record as JSON: /data/d/1988.json