Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
Synonyms: Culler-Jones syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Antenatal, Neonatal
- Status
- active
Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome is a rare, genetic developmental defect during embryogenesis disorder characterized primarily by congenital hypopituitarism and/or postaxial polydactyly. It can be associated with short stature, delayed bone age, hypogonadotropic hypogonadism, and/or midline facial defects (e.g. hypotelorism, mild midface hypoplasia, flat nasal bridge, and cleft lip and/or palate). Hypoplastic anterior pituitary and ectopic posterior pituitary lobe are frequent findings on MRI examination.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome | Culler-Jones syndrome |
| fr | Syndrome de polydactylie postaxiale-anomalies antéhypophysaires-dysmorphie faciale | Syndrome de Culler-Jones |
| de | Postaxiale Polydaktylie-vordere Hypophysenanomalien-Gesichtsdysmorphien-Syndrom | |
| es | Síndrome de polidactilia postaxial-anomalías de la hipofisaria anterior-dismorfia facial | |
| it | Sindrome polidattilia postassiale-anomalie dell'adenoipofisi-dismorfismi facciali | |
| nl | Postaxiale polydactylie - anomalieën van adenohypofyse - faciale dysmorfie-syndroom | Syndroom van Culler-Jones |
| pt | Síndrome de polidactilia pós-axial-anomalias da adenohipófise-dismorfia facial | Síndrome Culler-Jones · Síndrome de polidactilia pós-axial-anomalias da hipófise anterior-dismorfia facial |
| pl | Zespół polidaktylii pozaosiowej, wad części przedniej przysadki i dysmorfii twarzy | = en |
| cs | Syndrom zahrnující postaxiální polydaktylii, anomálie přední hypofýzy a faciální dysmorfismus | = en |
| uk | Синдром постаксіальної полідактилії-аномалії передньої частки гіпофіза-лицьового диcморфізму | Синдром Каллера-Джонса |
| zh | 轴后性多指症-垂体前叶发育异常-面部畸形综合征 | 卡勒琼斯综合征 |
| tr | Postaksiyal polidaktili-ön hipofiz anomalileri-fasiyal dismorfizm sendromu | Culler-Jones sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 615849 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| MONDO | 0014369 | E | validated | |
| UMLS | C4014479 | E | validated | |
| GARD | 13349 | 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 (2):
- ORPHA:95495Disease associated with non-acquired combined pituitary hormone deficiency
rare genetic diseases; rare endocrine diseases - ORPHA:294959Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases
No children.
Codes that Orphanet moved or referred to this one:
- ORPHA:2245OBSOLETE: Hypopituitarism-postaxial polydactyly syndrome referred to · inactive
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| GLI2 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:4318 | ENSG00000074047 | 165230 | 2q14.2 | GLI family zinc finger 2 | 24744436[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 112 cases | Worldwide | Case(s) | Validated | 24744436[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_24744436[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/420584
- This record as JSON: /data/d/420584.json