Holzgreve syndrome
ORPHA:2167Malformation syndromeAntenatal, Neonatal
Фенотипы (HPO)21
Очень частый (80–99%)7
HP:0006703Aplasia/Hypoplasia of the lungs
HP:0008678Renal hypoplasia/aplasia
HP:0030680Abnormal cardiovascular system morphology
HP:0000175Cleft palate
HP:0001161Hand polydactyly
HP:0001511Intrauterine growth retardation
HP:0001562Oligohydramnios
Частый (30–79%)14
HP:0000358Posteriorly rotated ears
HP:0000262Turricephaly
HP:0000400Macrotia
HP:0000465Webbed neck
HP:0000772Abnormal rib morphology
HP:0001195Single umbilical artery
HP:0001387Joint stiffness
HP:0005916Abnormal metacarpal morphology
HP:0007370Aplasia/Hypoplasia of the corpus callosum
HP:0010295Aplasia/Hypoplasia of the tongue
HP:0010297Bifid tongue
HP:0040071Abnormal morphology of ulna
HP:0100016Abnormality of mesentery morphology
HP:0100569Abnormally ossified vertebrae
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)