Waardenburg syndrome
ORPHA:3440DiseaseAutosomal dominant, Autosomal recessiveInfancy, Neonatal
Фенотипы (HPO)32
Очень частый (80–99%)9
HP:0000365Hearing impairment
HP:0000426Prominent nasal bridge
HP:0000664Synophrys
HP:0001000Abnormality of skin pigmentation
HP:0001053Hypopigmented skin patches
HP:0001100Heterochromia iridis
HP:0001999Abnormal facial shape
HP:0002216Premature graying of hair
HP:0005599Hypopigmentation of hair
Частый (30–79%)8
HP:0000407Sensorineural hearing impairment
HP:0000430Underdeveloped nasal alae
HP:0000431Wide nasal bridge
HP:0000478Abnormality of the eye
HP:0000506Telecanthus
HP:0000534Abnormal eyebrow morphology
HP:0002211White forelock
HP:0008527Congenital sensorineural hearing impairment
Периодический (5–29%)15
HP:0000202Orofacial cleft
HP:0000508Ptosis
HP:0000635Blue irides
HP:0002227White eyelashes
HP:0002251Aganglionic megacolon
HP:0002321Vertigo
HP:0002414Spina bifida
HP:0002475Myelomeningocele
HP:0005214Intestinal obstruction
HP:0008568Vestibular areflexia
HP:0009830Peripheral neuropathy
HP:0011024Abnormality of the gastrointestinal tract
HP:0012385Camptodactyly
HP:0034391Elbow contracture
HP:0100811Aplasia/Hypoplasia of the colon
Эпидемиология5
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Prevalence at birth | 1-9 / 1 000 000 | 0.37 | Europe | Value and class |
| Point prevalence | 1-9 / 100 000 | 1.74 | United States | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 2.4 | Netherlands | Value and class |
| Point prevalence | 1-9 / 100 000 | — | Netherlands | Class only |
| Point prevalence | 1-9 / 100 000 | — | Europe | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)