Schneckenbecken dysplasia
ORPHA:3144Malformation syndromeAutosomal recessiveAntenatal
Ассоциированные гены2
Фенотипы (HPO)26
Очень частый (80–99%)17
HP:0000256Macrocephaly
HP:0000272Malar flattening
HP:0000470Short neck
HP:0000773Short ribs
HP:0000774Narrow chest
HP:0000882Hypoplastic scapulae
HP:0000895Lateral clavicle hook
HP:0000944Abnormal metaphysis morphology
HP:0000946Hypoplastic ilia
HP:0001004Lymphedema
HP:0001561Polyhydramnios
HP:0002983Micromelia
HP:0003038Fibular hypoplasia
HP:0003312Abnormal form of the vertebral bodies
HP:0008479Hypoplastic vertebral bodies
HP:0008873Disproportionate short-limb short stature
HP:0012107Increased fibular diameter
Частый (30–79%)4
HP:0000028Cryptorchidism
HP:0000268Dolichocephaly
HP:0001231Abnormal fingernail morphology
HP:0001800Hypoplastic toenails
Периодический (5–29%)5
HP:0000175Cleft palate
HP:0000947Dumbbell-shaped long bone
HP:0005019Diaphyseal thickening
HP:0005616Accelerated skeletal maturation
HP:0008108Advanced tarsal ossification
Эпидемиология1
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| 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)