Duplication of the pituitary gland
Synonyms: DPG-plus syndrome · Duplication of the pituitary gland-plus syndrome · Hypophyseal duplication
- Type
- Morphological anomaly
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare midline cerebral malformation characterized by duplicated pituitary stalks and/or glands within duplicated sella. Patients may present various degrees of facial dysmorphism and endocrine abnormalities, including precocious puberty, hypogonadism, hypothyroidism and/or hyperprolactinemia, as well as associated congenital anomalies, such as clift lip/palate, bifid nasal bridge/tongue/uvula, hypothalamic enlargement with or without hamartoma, nasopharyngeal tumors, corpus callosum agenesis/hypoplasia, basilar artery duplication, and/or vertebral defects (in particular, duplication of the odontoid process).
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Duplication of the pituitary gland | DPG-plus syndrome · Duplication of the pituitary gland-plus syndrome · Hypophyseal duplication |
| fr | Duplication de l'hypophyse | Duplication de la glande pituitaire · Syndrome de duplication de l'hypophyse |
| de | Hypophysen-Verdoppelung | Hirnanhangdrüse-Verdoppelung · Verdoppelung der Hirnanhangdrüse plus-Syndrom · DPG plus-Syndrom |
| es | Duplicación de la glándula hipofisaria | Duplicación hipofisaria · Síndrome de DPG-plus · Síndrome de duplicación de la glándula hipofisaria-plus |
| it | Duplicazione della ghiandola ipofisaria | Duplicazione ipofisaria · Sindrome DPG-plus · Sindrome da duplicazione della ghiandola ipofisaria-plus |
| nl | Duplicatie van hypofyse | DPG-plus-syndroom · Duplicatie van hypofyse-plus-syndroom · Hypofysaire duplicatie |
| pt | Duplicação da hipófise | Duplicação hipofisária · Síndrome DPG-plus · Síndrome da duplicação hipofisária-plus |
| pl | Zdwojenie przysadki mózgowej | Zespół DPG-plus · Zespół zdwojenie przysadki plus |
| cs | Zdvojení hypofýzy | DPG-plus syndrom |
| uk | Дуплікація гіпофіза | Синдром DPG-плюс · Дуплікація синдрому гіпофіз-плюс · Гіпофізарне дублювання |
| zh | 垂体重复 | 双垂体附加综合征 |
| tr | Hipofiz bezinin duplikasyonu | DPG-artı sendromu · Hipofiz duplikasyon · Hipofiz bezi-artı sendromunun duplikasyonu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q89.2 | NTBT | attributed | validated |
| MONDO | 0017808 | E | validated | |
| UMLS | C4755258 | 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:268926Midline cerebral malformation
rare developmental anomalies during embryogenesis; rare genetic diseases; rare neurological diseases - ORPHA:181384Rare hypothalamic or pituitary disease
rare endocrine 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 | 38 cases | Worldwide | Case(s) | Validated | 22439114[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET |
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
34 annotations · validated 2016-02-22| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0012286 | Abnormal hypothalamus morphology | |
| HP:0011729 | Abnormality of joint mobility | |
| HP:3000005 | Abnormality of masseter muscle | |
| HP:0002418 | Abnormality of midbrain morphology | |
| HP:0003319 | Abnormality of the cervical spine | |
| HP:0003310 | Abnormality of the odontoid process | |
| HP:0012503 | Abnormality of the pituitary gland | |
| HP:0100872 | Abnormality of the plantar skin of foot | |
| HP:0002679 | Abnormality of the sella turcica | |
| HP:0000157 | Abnormality of the tongue | |
| HP:0001274 | Agenesis of corpus callosum | |
| HP:0000244 | Brachyturricephaly | |
| HP:0000175 | Cleft palate | |
| HP:0007642 | Congenital stationary night blindness | |
| HP:0004325 | Decreased body weight | |
| HP:0002084 | Encephalocele | |
| HP:0001263 | Global developmental delay | |
| HP:0000365 | Hearing impairment | |
| HP:0000316 | Hypertelorism | |
| HP:0007036 | Hypoplasia of olfactory tract | |
| HP:0010864 | Intellectual disability, severe | |
| HP:0002061 | Lower limb spasticity | |
| HP:0000252 | Microcephaly | |
| HP:0011800 | Midface retrusion | |
| HP:0001561 | Polyhydramnios | |
| HP:0000278 | Retrognathia | |
| HP:0000742 | Self-mutilation | |
| HP:0000470 | Short neck | |
| HP:0004322 | Short stature | |
| HP:0011069 | Supernumerary tooth | |
| HP:0009792 | Teratoma | |
| HP:0002943 | Thoracic scoliosis | |
| HP:0000154 | Wide mouth | |
| Occasional (29-5%) | ||
| HP:0002580 | Volvulus | |
Run the differential on the 12 obligate / very frequent terms
Annotation source: 23182816[PMID]_21415659[PMID]_22439114[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/314621
- This record as JSON: /data/d/314621.json