Costello syndrome
ORPHA:3071Malformation syndromeAutosomal dominant, Not applicableAntenatal, Neonatal
Ассоциированные гены1
Фенотипы (HPO)55
Очень частый (80–99%)20
HP:0000189Narrow palate
HP:0000256Macrocephaly
HP:0000470Short neck
HP:0000508Ptosis
HP:0000951Abnormality of the skin
HP:0000956Acanthosis nigricans
HP:0000962Hyperkeratosis
HP:0001231Abnormal fingernail morphology
HP:0001531Failure to thrive in infancy
HP:0001582Redundant skin
HP:0001598Concave nail
HP:0001629Ventricular septal defect
HP:0001642Pulmonic stenosis
HP:0001814Deep-set nails
HP:0002224Woolly hair
HP:0002750Delayed skeletal maturation
HP:0004322Short stature
HP:0005280Depressed nasal bridge
HP:0008872Feeding difficulties in infancy
HP:0100679Lack of skin elasticity
Частый (30–79%)26
HP:0000486Strabismus
HP:0000028Cryptorchidism
HP:0000158Macroglossia
HP:0000164Abnormality of the dentition
HP:0000179Thick lower lip vermilion
HP:0000286Epicanthus
HP:0000293Full cheeks
HP:0000474Thickened nuchal skin fold
HP:0000483Astigmatism
HP:0000543Optic disc pallor
HP:0000545Myopia
HP:0000563Keratoconus
HP:0000639Nystagmus
HP:0000682Abnormality of dental enamel
HP:0001249Intellectual disability
HP:0001382Joint hypermobility
HP:0001561Polyhydramnios
HP:0001634Mitral valve prolapse
HP:0001639Hypertrophic cardiomyopathy
HP:0001800Hypoplastic toenails
HP:0002020Gastroesophageal reflux
HP:0002120Cerebral cortical atrophy
HP:0004690Thickened Achilles tendon
HP:0007477Abnormal dermatoglyphics
HP:0009465Ulnar deviation of finger
HP:0012740Papilloma
Периодический (5–29%)9
HP:0000280Coarse facial features
HP:0000358Posteriorly rotated ears
HP:0000540Hypermetropia
HP:0001595Abnormality of the hair
HP:0002033Poor suck
HP:0007440Generalized hyperpigmentation
HP:0009748Large earlobe
HP:0031705Compensatory head posture
HP:0100729Large face
Эпидемиология3
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 300 | Worldwide | Case(s) |
| Point prevalence | <1 / 1 000 000 | 0.08 | Japan | Value and class |
| 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)