Shprintzen-Goldberg syndrome
ORPHA:2462Malformation syndromeAutosomal dominant, Multigenic/multifactorial, Not applicableAntenatal, Infancy, Neonatal
Ассоциированные гены2
Фенотипы (HPO)53
Очень частый (80–99%)14
HP:0000268Dolichocephaly
HP:0000278Retrognathia
HP:0000316Hypertelorism
HP:0000347Micrognathia
HP:0000358Posteriorly rotated ears
HP:0000369Low-set ears
HP:0000494Downslanted palpebral fissures
HP:0000506Telecanthus
HP:0000520Proptosis
HP:0001166Arachnodactyly
HP:0001249Intellectual disability
HP:0001252Hypotonia
HP:0001763Pes planus
HP:0002705High, narrow palate
Частый (30–79%)17
HP:0001382Joint hypermobility
HP:0000023Inguinal hernia
HP:0000327Hypoplasia of the maxilla
HP:0000348High forehead
HP:0000486Strabismus
HP:0000508Ptosis
HP:0000767Pectus excavatum
HP:0000768Pectus carinatum
HP:0001334Communicating hydrocephalus
HP:0001363Craniosynostosis
HP:0001537Umbilical hernia
HP:0001634Mitral valve prolapse
HP:0001646Abnormal aortic valve morphology
HP:0001653Mitral regurgitation
HP:0002007Frontal bossing
HP:0002650Scoliosis
HP:0100490Camptodactyly of finger
Периодический (5–29%)22
HP:0000028Cryptorchidism
HP:0000252Microcephaly
HP:0000405Conductive hearing impairment
HP:0000411Protruding ear
HP:0000463Anteverted nares
HP:0000545Myopia
HP:0000774Narrow chest
HP:0000921Missing ribs
HP:0000938Osteopenia
HP:0000944Abnormal metaphysis morphology
HP:0000974Hyperextensible skin
HP:0001387Joint stiffness
HP:0001508Failure to thrive
HP:0002020Gastroesophageal reflux
HP:0002104Apnea
HP:0002119Ventriculomegaly
HP:0002308Chiari malformation
HP:0002857Genu valgum
HP:0003042Elbow dislocation
HP:0003312Abnormal form of the vertebral bodies
HP:0006487Bowing of the long bones
HP:0010318Aplasia/Hypoplasia of the abdominal wall musculature
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 60 | 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)