CLOVES syndrome
ORPHA:140944Malformation syndromeNot applicableInfancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)43
Очень частый (80–99%)2
HP:0009126Increased adipose tissue
HP:0025104Capillary malformation
Частый (30–79%)13
HP:0000324Facial asymmetry
HP:0001169Broad palm
HP:0001528Hemihypertrophy
HP:0001782Bulbous tips of toes
HP:0001852Sandal gap
HP:0002650Scoliosis
HP:0004099Macrodactyly
HP:0009487Ulnar deviation of the hand
HP:0010816Epidermal nevus
HP:0012721Venous malformation
HP:0100555Asymmetric growth
HP:0100766Abnormal lymphatic vessel morphology
HP:0430028Hyperplasia of the maxilla
Периодический (5–29%)26
HP:0000107Renal cyst
HP:0000689Dental malocclusion
HP:0000767Pectus excavatum
HP:0000965Cutis marmorata
HP:0001249Intellectual disability
HP:0001250Seizure
HP:0001288Gait disturbance
HP:0001977Abnormal thrombosis
HP:0002126Polymicrogyria
HP:0002414Spina bifida
HP:0002435Meningocele
HP:0002475Myelomeningocele
HP:0002999Patellar dislocation
HP:0007206Hemimegalencephaly
HP:0007340Lower limb muscle weakness
HP:0007370Aplasia/Hypoplasia of the corpus callosum
HP:0008678Renal hypoplasia/aplasia
HP:0010442Polydactyly
HP:0010609Skin tags
HP:0012531Pain
HP:0012725Cutaneous syndactyly
HP:0025476Testicular lipomatosis
HP:0031287Seborrheic keratosis
HP:0033794Acral overgrowth
HP:0100026Arteriovenous malformation
HP:0100559Lower limb asymmetry
Очень редкий (1–4%)2
HP:0001385Hip dysplasia
HP:0002667Nephroblastoma
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 150 | 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)