Greig cephalopolysyndactyly-contiguous gene syndrome
Synonyms: GCP-CGS
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Antenatal
- Status
- active
A rare multiple congenital anomalies/dysmorphic syndrome characterized by polydactyly, syndactyly (pre‑ or post‑axial polydactyly of hands and/or feet with variable cutaneous syndactyly), craniofacial features (including macrocephaly, frontal bossing, hypertelorism and broad nasal bridge)- that are similar to those observed in patients with Greig cephalopolysyndactyly syndrome-, as well as clear developmental delay, moderate to severe intellectual disability, seizures and structural brain abnormalities including agenesis/hypoplasia of the corpus callosum. Additional central nervous system anomalies may include ventriculomegaly, aqueductal stenosis and other midline defects. Patients present with larger microdeletions that encompass the <i>GLI3</i> gene and depending on the size of the deletion, additional clinical features such as hernias and hyperglycemia may be present.
Names in Orphadata languages
10 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Greig cephalopolysyndactyly-contiguous gene syndrome | GCP-CGS |
| fr | Syndrome des gènes contigus de céphalopolysyndactylie de Greig | |
| de | Greig-Zephalopolysyndaktylie-Contiguous gene-Syndrom | = en |
| es | Síndrome de cefalopolisindactilia de Greig-de genes contiguos | |
| it | Sindrome da geni contigui-cefalopolisindattilia di Greig | GCP-SCG |
| nl | Greig-cefalopolysyndactylie - 'contiguous gene'-syndroom | = en |
| pt | Síndrome Greig de cefalopolissindactilia-gene contíguo | = en |
| pl | Zespół związany z genami sąsiadującymi z locus dla cefalopolisyndaktylii Greiga | = en |
| cs | Syndrom Greigovy cefalopolysyndaktylie a přilehlých genů | = en |
| uk | Синдром цефалополісиндактилії Грейга | = en |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 175700 | NTBT | validated | |
| ICD-10 | Q87.0 | NTBT | attributed | validated |
| MONDO | 0958130 | E | validated | |
| MONDO | 958130 | E | validated | |
| UMLS | C5925145 | 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: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:261911Partial deletion of the short arm of chromosome 7 syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases - ORPHA:294959Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone 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 |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 34828280[PMID]_ORPHANET |
| Cases/families | 200 cases | Worldwide | Case(s) | Validated | 34828280[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/658805
- This record as JSON: /data/d/658805.json