Splenogonadal fusion-limb defects-micrognathia syndrome
Synonyms: SGFLD syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Age of onset
- Antenatal, Neonatal
- Status
- active
A rare dysostosis syndrome characterized by abnormal fusion of the spleen with the gonad (or more rarely with remnants of the mesonephros), limb abnormalities (consisting of amelia or severe reduction defects leading to upper and/or lower rudimentary limbs) and orofacial abnormalities such as cleft palate, bifid uvula, microglossia and mandibular hypoplasia. It could also be associated with other malformations such as cryptorchidism, anal stenosis/atresia, hypoplastic lungs and cardiac malformations.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Splenogonadal fusion-limb defects-micrognathia syndrome | SGFLD syndrome |
| fr | Syndrome de fusion splénogonadique-anomalie transversale des membres-micrognathie | Syndrome SGFLD |
| de | Splenogonadale Fusion-Extremitätenfehlbildung-Mikrognathie-Syndrom | SGFLD-Syndrom |
| es | Síndrome de fusión esplenogonadal-anomalías de las extremidades-micrognatia | Síndrome SGFLD |
| it | Fusione splenogonadica - difetti degli arti - micrognatia | |
| nl | Splenogonadale fusie - ledemaatdefecten - micrognatie-syndroom | SGFLD-syndroom |
| pt | Síndrome de fusão esplenogonadal-anomalias dos membros-micrognatia | |
| pl | Połączenie śledzionowo-mosznowe - wady kończyn - małożuchwie | = en |
| cs | Syndrom zahrnující splenogonadální fúzi, končetinové defekty a mikrognatii | SGFLD syndrom |
| uk | Синдром спленогонадального зрощення-дефектів кінцівок-мікрогнатії | Синдром SGFLD |
| zh | 脾生殖腺融合-肢体缺陷-小颌畸形综合征 | SGFLD综合征 |
| tr | Splenogonadal füzyon-ekstremite defektleri-mikrognati sendromu | SGFLD sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 183300 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| MONDO | 0008460 | E | validated | |
| MeSH | C537318 | E | validated | |
| UMLS | C1866745 | E | validated | |
| GARD | 4963 | 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 (5):
- ORPHA:139036Branchial arch or oral-acral syndrome
rare developmental anomalies during embryogenesis - ORPHA:183576Genetic branchial arch or oral-acral syndrome
rare genetic 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 - ORPHA:108973Syndromic visceral malformation of the liver, biliary tract, pancreas or spleen
rare developmental anomalies during embryogenesis; rare genetic diseases; rare abdominal surgical diseases
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 | 30 cases | Worldwide | Case(s) | Validated | 10494091[PMID]_12884431[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_10494091[PMID]_12884431[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
28 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002991 | Abnormal fibula morphology | |
| HP:0002823 | Abnormality of femur morphology | |
| HP:0002815 | Abnormality of the knee | |
| HP:0000951 | Abnormality of the skin | |
| HP:0002817 | Abnormality of the upper limb | |
| HP:0003019 | Abnormality of the wrist | |
| HP:0001385 | Hip dysplasia | |
| HP:0000023 | Inguinal hernia | |
| HP:0001622 | Premature birth | |
| Frequent (79-30%) | ||
| HP:0000028 | Cryptorchidism | |
| HP:0100559 | Lower limb asymmetry | |
| HP:0000347 | Micrognathia | |
| HP:0100560 | Upper limb asymmetry | |
| Occasional (29-5%) | ||
| HP:0030680 | Abnormal cardiovascular system morphology | |
| HP:0002101 | Abnormal lung lobation | |
| HP:0000174 | Abnormal palate morphology | |
| HP:0002269 | Abnormality of neuronal migration | |
| HP:0002023 | Anal atresia | |
| HP:0006703 | Aplasia/Hypoplasia of the lungs | |
| HP:0100543 | Cognitive impairment | |
| HP:0000776 | Congenital diaphragmatic hernia | |
| HP:0006333 | Crowded maxillary incisors | |
| HP:0006283 | Multiple unerupted teeth | |
| HP:0000189 | Narrow palate | |
| HP:0001357 | Plagiocephaly | |
| HP:0000358 | Posteriorly rotated ears | |
| HP:0001250 | Seizure | |
| HP:0009804 | Tooth agenesis | |
Run the differential on the 9 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2063
- This record as JSON: /data/d/2063.json