Cantú syndrome
ORPHA:1517Malformation syndromeAutosomal dominant, Not applicableNeonatal
Ассоциированные гены2
Фенотипы (HPO)38
Очень частый (80–99%)13
HP:0000154Wide mouth
HP:0000280Coarse facial features
HP:0000294Low anterior hairline
HP:0000343Long philtrum
HP:0000527Long eyelashes
HP:0000574Thick eyebrow
HP:0000944Abnormal metaphysis morphology
HP:0001640Cardiomegaly
HP:0002162Low posterior hairline
HP:0002230Generalized hirsutism
HP:0002673Coxa valga
HP:0007665Curly eyelashes
HP:0012471Thick vermilion border
Частый (30–79%)21
HP:0000256Macrocephaly
HP:0000286Epicanthus
HP:0000336Prominent supraorbital ridges
HP:0000431Wide nasal bridge
HP:0000463Anteverted nares
HP:0000470Short neck
HP:0000774Narrow chest
HP:0000885Broad ribs
HP:0000926Platyspondyly
HP:0000939Osteoporosis
HP:0001256Intellectual disability, mild
HP:0001537Umbilical hernia
HP:0001643Patent ductus arteriosus
HP:0001869Deep plantar creases
HP:0002652Skeletal dysplasia
HP:0002750Delayed skeletal maturation
HP:0003300Ovoid vertebral bodies
HP:0004634Cuboid-shaped vertebral bodies
HP:0009882Short distal phalanx of finger
HP:0010059Broad hallux phalanx
HP:0010109Short hallux
Периодический (5–29%)4
HP:0001639Hypertrophic cardiomyopathy
HP:0001654Abnormal heart valve morphology
HP:0005616Accelerated skeletal maturation
HP:0006101Finger syndactyly
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 50 | 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)