Van den Ende-Gupta syndrome
ORPHA:2460Malformation syndromeAutosomal recessiveInfancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)38
Очень частый (80–99%)5
HP:0000232Everted lower lip vermilion
HP:0000272Malar flattening
HP:0000581Blepharophimosis
HP:0001166Arachnodactyly
HP:0012385Camptodactyly
Частый (30–79%)17
HP:0001833Long foot
HP:0003083Dislocated radial head
HP:00046912-3 toe syndactyly
HP:0005280Depressed nasal bridge
HP:0006236Slender metacarpals
HP:0006487Bowing of the long bones
HP:0034391Elbow contracture
HP:0034392Joint contracture
HP:0000218High palate
HP:0000324Facial asymmetry
HP:0000325Triangular face
HP:0000411Protruding ear
HP:0000460Narrow nose
HP:0000494Downslanted palpebral fissures
HP:0000883Thin ribs
HP:0000895Lateral clavicle hook
HP:0001822Hallux valgus
Периодический (5–29%)16
HP:0000126Hydronephrosis
HP:0000160Narrow mouth
HP:0000347Micrognathia
HP:0000365Hearing impairment
HP:0000430Underdeveloped nasal alae
HP:0000647Sclerocornea
HP:0000678Dental crowding
HP:0000750Delayed speech and language development
HP:0001363Craniosynostosis
HP:0001762Talipes equinovarus
HP:0004411Deviated nasal septum
HP:0006633Glenoid fossa hypoplasia
HP:0008744Abnormal aryepiglottic fold morphology
HP:0009929Abnormal columella morphology
HP:0030084Clinodactyly
HP:0034671Knee contracture
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 29 | 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)