Duplication of the pituitary gland
ORPHA:314621Morphological anomalyNot applicableInfancy, Neonatal
Фенотипы (HPO)34
Очень частый (80–99%)33
HP:0000154Wide mouth
HP:0000157Abnormality of the tongue
HP:0000175Cleft palate
HP:0000244Brachyturricephaly
HP:0000252Microcephaly
HP:0000278Retrognathia
HP:0000316Hypertelorism
HP:0000365Hearing impairment
HP:0000470Short neck
HP:0000742Self-mutilation
HP:0001263Global developmental delay
HP:0001274Agenesis of corpus callosum
HP:0001561Polyhydramnios
HP:0002061Lower limb spasticity
HP:0002084Encephalocele
HP:0002418Abnormality of midbrain morphology
HP:0002679Abnormality of the sella turcica
HP:0002943Thoracic scoliosis
HP:0003310Abnormality of the odontoid process
HP:0003319Abnormality of the cervical spine
HP:0004322Short stature
HP:0004325Decreased body weight
HP:0007036Hypoplasia of olfactory tract
HP:0007642Congenital stationary night blindness
HP:0009792Teratoma
HP:0010864Intellectual disability, severe
HP:0011069Supernumerary tooth
HP:0011729Abnormality of joint mobility
HP:0011800Midface retrusion
HP:0012286Abnormal hypothalamus morphology
HP:0012503Abnormality of the pituitary gland
HP:0100872Abnormality of the plantar skin of foot
HP:3000005Abnormality of masseter muscle
Периодический (5–29%)1
HP:0002580Volvulus
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 38 | Worldwide | Case(s) |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)