Facial dysmorphism-shawl scrotum-joint laxity syndrome
ORPHA:1778Malformation syndromeNeonatal
Фенотипы (HPO)24
Очень частый (80–99%)14
HP:0000028Cryptorchidism
HP:0000049Shawl scrotum
HP:0000286Epicanthus
HP:0000316Hypertelorism
HP:0000319Smooth philtrum
HP:0000369Low-set ears
HP:0000411Protruding ear
HP:0000431Wide nasal bridge
HP:0000494Downslanted palpebral fissures
HP:0000506Telecanthus
HP:0000508Ptosis
HP:0002857Genu valgum
HP:0003764Nevus
HP:0010669Hypoplasia of the zygomatic bone
Частый (30–79%)10
HP:0000239Large fontanelles
HP:0000303Mandibular prognathia
HP:0001256Intellectual disability, mild
HP:0001537Umbilical hernia
HP:0001608Abnormality of the voice
HP:0001928Abnormality of coagulation
HP:0002162Low posterior hairline
HP:0002167Abnormality of speech or vocalization
HP:0002967Cubitus valgus
HP:0001382Joint hypermobility
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)