Segmental venous malformation
ORPHA:217008Malformation syndromeNot applicableChildhood, Neonatal
Фенотипы (HPO)21
Очень частый (80–99%)8
HP:0001015Prominent superficial veins
HP:0001528Hemihypertrophy
HP:0006496Aplasia/hypoplasia involving bones of the upper limbs
HP:0012721Venous malformation
HP:0025104Capillary malformation
HP:0040064Abnormality of limbs
HP:0100555Asymmetric growth
HP:0100585Telangiectasia of the skin
Частый (30–79%)9
HP:0000969Edema
HP:0002753Thin bony cortex
HP:0002984Hypoplasia of the radius
HP:0003022Hypoplasia of the ulna
HP:0004936Venous thrombosis
HP:0005792Short humerus
HP:0010484Hypertrophy of the upper limb
HP:0011804Abnormal muscle physiology
HP:0100671Abnormal trabecular bone morphology
Периодический (5–29%)4
HP:0001155Abnormality of the hand
HP:0001760Abnormal foot morphology
HP:0003401Paresthesia
HP:0009824Upper limb undergrowth
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 40 | 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)