Cutis marmorata telangiectatica congenita
ORPHA:1556Malformation syndromeNot applicableNeonatal
Ассоциированные гены2
Фенотипы (HPO)32
Очень частый (80–99%)9
HP:0000951Abnormality of the skin
HP:0000965Cutis marmorata
HP:0001250Seizure
HP:0001933Subcutaneous hemorrhage
HP:0002814Abnormality of the lower limb
HP:0002817Abnormality of the upper limb
HP:0006385Short lower limbs
HP:0100026Arteriovenous malformation
HP:0200041Skin erosion
Частый (30–79%)4
HP:0000541Retinal detachment
HP:0000555Leukocoria
HP:0008065Aplasia/Hypoplasia of the skin
HP:0100585Telangiectasia of the skin
Периодический (5–29%)19
HP:0000003Multicystic kidney dysplasia
HP:0000202Orofacial cleft
HP:0000347Micrognathia
HP:0000821Hypothyroidism
HP:0000979Purpura
HP:0001511Intrauterine growth retardation
HP:0001541Ascites
HP:0001643Patent ductus arteriosus
HP:0001770Toe syndactyly
HP:0002650Scoliosis
HP:0004349Reduced bone mineral density
HP:0005306Capillary hemangioma
HP:0006101Finger syndactyly
HP:0007565Multiple cafe-au-lait spots
HP:0100543Cognitive impairment
HP:0100545Arterial stenosis
HP:0100555Asymmetric growth
HP:0100627Displacement of the urethral meatus
HP:0100814Blue nevus
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 300 | 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)