SCARF syndrome
ORPHA:3134Malformation syndromeX-linked recessiveInfancy, Neonatal
Фенотипы (HPO)32
Частый (30–79%)30
HP:0001382Joint hypermobility
HP:0000358Posteriorly rotated ears
HP:0000023Inguinal hernia
HP:0000028Cryptorchidism
HP:0000048Bifid scrotum
HP:0000051Perineal hypospadias
HP:0000054Micropenis
HP:0000280Coarse facial features
HP:0000286Epicanthus
HP:0000343Long philtrum
HP:0000465Webbed neck
HP:0000470Short neck
HP:0000486Strabismus
HP:0000494Downslanted palpebral fissures
HP:0000508Ptosis
HP:0000768Pectus carinatum
HP:0000879Short sternum
HP:0000973Cutis laxa
HP:0001256Intellectual disability, mild
HP:0001363Craniosynostosis
HP:0001537Umbilical hernia
HP:0001540Diastasis recti
HP:0002162Low posterior hairline
HP:0003312Abnormal form of the vertebral bodies
HP:0006297Enamel hypoplasia
HP:0006610Wide intermamillary distance
HP:0008070Sparse hair
HP:0011084Hypocalcification of dental enamel
HP:0012028Hepatocellular adenoma
HP:0012810Wide nasal base
Периодический (5–29%)2
HP:0002342Intellectual disability, moderate
HP:0002557Hypoplastic nipples
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 2 | 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)