ORPHA:380
Greig cephalopolysyndactyly syndrome
Synonyms: GCPS
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Antenatal
- Status
- active
A rare developmental defect during embryogenesis with digit duplication, polydactyly, syndactyly, and/or hyperphalangy characterized by multiple congenital anomaly syndrome.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Greig cephalopolysyndactyly syndrome | GCPS |
| fr | Syndrome de céphalopolysyndactylie de Greig | GCPS · SCPG |
| de | Greig-Zephalopolysyndaktylie-Syndrom | GCPS · Greig-Syndrom |
| es | Síndrome de cefalopolisindactilia de Greig | GCPS · SCPG |
| it | Sindrome da cefalopolisindattilia di Greig | = en |
| nl | Greig-cefalopolysyndactyliesyndroom | Cefalopolysyndactyliesyndroom van Greig · GCPS |
| pt | Síndrome de cefalopolissindactilia Greig | = en |
| pl | Zespół cefalopolisyndaktylii Greiga | = en |
| cs | Greigův syndrom cefalopolysyndaktylie | = en |
| uk | Синдром цефалополісиндактилії Грейга | = en |
| zh | Greig头多指（趾）综合征 | = en |
| tr | Greig sefalopolisindaktili sendromu | = en |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 175700 | NTBT | validated | |
| ICD-10 | Q87.0 | NTBT | attributed | validated |
| ICD-11 | LD26.2 | NTBT | index | validated |
| MONDO | 0008287 | E | validated | |
| MeSH | C537300 | E | validated | |
| UMLS | C0265306 | E | validated | |
| GARD | 6550 | E | validated | |
| MedDRA | 10053878 | 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 (4):
- ORPHA:363250Ciliopathy
rare genetic diseases - ORPHA:330206Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
rare genetic diseases - ORPHA:102285Multiple congenital anomalies/dysmorphic syndrome without intellectual disability
rare developmental anomalies during embryogenesis - ORPHA:294959Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| GLI3 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:4319 | ENSG00000106571 | 165240 | 7p14.1 | GLI family zinc finger 3 | 10441342[PMID]_12794692[PMID]_20301619[PMID]_18435847[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Prevalence at birth | 1-9 / 1 000 000 | — | Europe | Class only | Validated | ORPHANET_ 25297527[PMID]_[EXPERT] |
| Point prevalence | Unknown | — | Worldwide | Class only | Validated | ORPHANET_[EXPERT] |
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
22 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000256 | Macrocephaly | |
| HP:0001162 | Postaxial hand polydactyly | |
| HP:0001841 | Preaxial foot polydactyly | |
| Frequent (79-30%) | ||
| HP:0005616 | Accelerated skeletal maturation | |
| HP:0006101 | Finger syndactyly | |
| HP:0002007 | Frontal bossing | |
| HP:0000348 | High forehead | |
| HP:0000316 | Hypertelorism | |
| HP:0000506 | Telecanthus | |
| HP:0001770 | Toe syndactyly | |
| HP:0000431 | Wide nasal bridge | |
| Occasional (29-5%) | ||
| HP:0001274 | Agenesis of corpus callosum | |
| HP:0010059 | Broad hallux phalanx | |
| HP:0011304 | Broad thumb | |
| HP:0000776 | Congenital diaphragmatic hernia | |
| HP:0001363 | Craniosynostosis | |
| HP:0000238 | Hydrocephalus | |
| HP:0001256 | Intellectual disability, mild | |
| HP:0001830 | Postaxial foot polydactyly | |
| HP:0001177 | Preaxial hand polydactyly | |
| HP:0001250 | Seizure | |
| HP:0001537 | Umbilical hernia | |
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/380
- This record as JSON: /data/d/380.json