Contractures-developmental delay-Pierre Robin syndrome
ORPHA:436003Malformation syndromeUnknownAntenatal, Neonatal
Фенотипы (HPO)36
Очень частый (80–99%)2
HP:0000750Delayed speech and language development
HP:0001270Motor delay
Частый (30–79%)13
HP:0000162Glossoptosis
HP:0000175Cleft palate
HP:0000347Micrognathia
HP:0000396Overfolded helix
HP:0001166Arachnodactyly
HP:0001167Abnormality of finger
HP:0001385Hip dysplasia
HP:0001762Talipes equinovarus
HP:0002870Obstructive sleep apnea
HP:0002974Radioulnar synostosis
HP:0003396Syringomyelia
HP:0009778Short thumb
HP:0012430Cerebral white matter hypoplasia
Периодический (5–29%)21
HP:0000023Inguinal hernia
HP:0000047Hypospadias
HP:0000394Lop ear
HP:0000430Underdeveloped nasal alae
HP:0000486Strabismus
HP:0000494Downslanted palpebral fissures
HP:0000612Iris coloboma
HP:0001239Wrist flexion contracture
HP:0001631Atrial septal defect
HP:0001840Metatarsus adductus
HP:0001845Overlapping toe
HP:0002360Sleep abnormality
HP:0002687Abnormality of the frontal sinuses
HP:0002705High, narrow palate
HP:0002944Thoracolumbar scoliosis
HP:0004969Peripheral pulmonary artery stenosis
HP:0007099Chiari type I malformation
HP:0007359Focal-onset seizure
HP:0008551Microtia
HP:0009929Abnormal columella morphology
HP:0025100Abnormal hippocampus morphology
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 6 | 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)