Pseudoleprechaunism syndrome, Patterson type
ORPHA:2976Malformation syndromeAntenatal, Neonatal
Фенотипы (HPO)29
Очень частый (80–99%)25
HP:0003310Abnormality of the odontoid process
HP:0004979Metaphyseal sclerosis
HP:0006505Abnormality of limb epiphysis morphology
HP:0007517Palmoplantar cutis laxa
HP:0007574Generalized bronze hyperpigmentation
HP:0008788Delayed pubic bone ossification
HP:0010864Intellectual disability, severe
HP:0012767Abnormal placental size
HP:0430005Abnormality of ethmoid bone
HP:0430028Hyperplasia of the maxilla
HP:3000077Abnormal mandible condylar process morphology
HP:0000015Bladder diverticulum
HP:0000400Macrotia
HP:0000448Prominent nose
HP:0000819Diabetes mellitus
HP:0001007Hirsutism
HP:0001176Large hands
HP:0001386Joint swelling
HP:0001833Long foot
HP:0002069Bilateral tonic-clonic seizure
HP:0002684Thickened calvaria
HP:0002750Delayed skeletal maturation
HP:0002751Kyphoscoliosis
HP:0002857Genu valgum
HP:0003180Flat acetabular roof
Частый (30–79%)3
HP:0010819Atonic seizure
HP:0012412Premature adrenarche
HP:0030348Increased circulating androgen concentration
Исключён (0%)1
HP:0001511Intrauterine growth retardation
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 2 | 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)