Anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome
ORPHA:1101Malformation syndromeAutosomal recessiveInfancy, Neonatal
Фенотипы (HPO)28
Частый (30–79%)28
HP:0000023Inguinal hernia
HP:0000028Cryptorchidism
HP:0000268Dolichocephaly
HP:0000303Mandibular prognathia
HP:0000327Hypoplasia of the maxilla
HP:0000343Long philtrum
HP:0000485Megalocornea
HP:0000526Aniridia
HP:0000528Anophthalmia
HP:0000545Myopia
HP:0000587Abnormal optic nerve morphology
HP:0000598Abnormality of the ear
HP:0000767Pectus excavatum
HP:0001131Corneal dystrophy
HP:0001357Plagiocephaly
HP:0001537Umbilical hernia
HP:0001653Mitral regurgitation
HP:0001704Tricuspid valve prolapse
HP:0001762Talipes equinovarus
HP:0002650Scoliosis
HP:0002705High, narrow palate
HP:0004327Abnormal vitreous humor morphology
HP:0005180Tricuspid regurgitation
HP:0009004Hypoplasia of the musculature
HP:0009465Ulnar deviation of finger
HP:0030680Abnormal cardiovascular system morphology
HP:0100490Camptodactyly of finger
HP:0200007Abnormal size of the palpebral fissures
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 3 | 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)