Multiple benign circumferential skin creases on limbs
ORPHA:2505DiseaseAutosomal dominant, Autosomal recessiveInfancy, Neonatal
Ассоциированные гены2
Фенотипы (HPO)30
Очень частый (80–99%)3
HP:0000969Edema
HP:0001072Thickened skin
HP:0007522Increased number of skin folds
Частый (30–79%)2
HP:0000175Cleft palate
HP:0007400Irregular hyperpigmentation
Периодический (5–29%)25
HP:0000358Posteriorly rotated ears
HP:0000377Abnormal pinna morphology
HP:0000023Inguinal hernia
HP:0000028Cryptorchidism
HP:0000045Abnormality of the scrotum
HP:0000046Small scrotum
HP:0000047Hypospadias
HP:0000252Microcephaly
HP:0000271Abnormality of the face
HP:0000286Epicanthus
HP:0000343Long philtrum
HP:0000347Micrognathia
HP:0000482Microcornea
HP:0000488Retinopathy
HP:0000568Microphthalmia
HP:0001249Intellectual disability
HP:0001263Global developmental delay
HP:0001537Umbilical hernia
HP:0001635Congestive heart failure
HP:0002230Generalized hirsutism
HP:0003011Abnormality of the musculature
HP:0004322Short stature
HP:0006768Localized neuroblastoma
HP:0100559Lower limb asymmetry
HP:0100560Upper limb asymmetry
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 32 | 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)