Hall-Riggs syndrome
ORPHA:2107Malformation syndromeAutosomal recessiveNeonatal
Фенотипы (HPO)29
Очень частый (80–99%)9
HP:0000252Microcephaly
HP:0000286Epicanthus
HP:0000431Wide nasal bridge
HP:0000463Anteverted nares
HP:0001344Absent speech
HP:0004322Short stature
HP:0010864Intellectual disability, severe
HP:0011344Severe global developmental delay
HP:0012471Thick vermilion border
Частый (30–79%)17
HP:0000154Wide mouth
HP:0000316Hypertelorism
HP:0000448Prominent nose
HP:0000926Platyspondyly
HP:0000944Abnormal metaphysis morphology
HP:0001156Brachydactyly
HP:0001250Seizure
HP:0001508Failure to thrive
HP:0002017Nausea and vomiting
HP:0002208Coarse hair
HP:0002217Slow-growing hair
HP:0002650Scoliosis
HP:0002714Downturned corners of mouth
HP:0002750Delayed skeletal maturation
HP:0005930Abnormality of epiphysis morphology
HP:0009826Limb undergrowth
HP:0100874Thick hair
Периодический (5–29%)3
HP:0000682Abnormality of dental enamel
HP:0000684Delayed eruption of teeth
HP:0001387Joint stiffness
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 8 | 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)