Marshall syndrome
ORPHA:560Malformation syndromeAutosomal dominant, Autosomal recessiveNeonatal
Ассоциированные гены1
Фенотипы (HPO)42
Очень частый (80–99%)19
HP:0000164Abnormality of the dentition
HP:0000179Thick lower lip vermilion
HP:0000215Thick upper lip vermilion
HP:0000248Brachycephaly
HP:0000272Malar flattening
HP:0000316Hypertelorism
HP:0000343Long philtrum
HP:0000347Micrognathia
HP:0000407Sensorineural hearing impairment
HP:0000431Wide nasal bridge
HP:0000463Anteverted nares
HP:0000518Cataract
HP:0000545Myopia
HP:0002829Arthralgia
HP:0003196Short nose
HP:0004322Short stature
HP:0005280Depressed nasal bridge
HP:0010669Hypoplasia of the zygomatic bone
HP:0012368Flat face
Частый (30–79%)17
HP:0000175Cleft palate
HP:0000327Hypoplasia of the maxilla
HP:0000501Glaucoma
HP:0000505Visual impairment
HP:0000520Proptosis
HP:0000541Retinal detachment
HP:0000646Amblyopia
HP:0000966Hypohidrosis
HP:0001083Ectopia lentis
HP:0002514Cerebral calcification
HP:0002684Thickened calvaria
HP:0002738Hypoplastic frontal sinuses
HP:0002758Osteoarthritis
HP:0002857Genu valgum
HP:0004327Abnormal vitreous humor morphology
HP:0007773Vitreoretinopathy
HP:0008070Sparse hair
Периодический (5–29%)6
HP:0000218High palate
HP:0000486Strabismus
HP:0000639Nystagmus
HP:0000653Sparse eyelashes
HP:0002007Frontal bossing
HP:0045075Sparse eyebrow
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 17 | 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)