C syndrome
ORPHA:1308Malformation syndromeNot applicable, UnknownAntenatal, Neonatal
Ассоциированные гены1
Фенотипы (HPO)54
Очень частый (80–99%)20
HP:0000358Posteriorly rotated ears
HP:0000028Cryptorchidism
HP:0000212Gingival overgrowth
HP:0000218High palate
HP:0000243Trigonocephaly
HP:0000252Microcephaly
HP:0000286Epicanthus
HP:0000319Smooth philtrum
HP:0000343Long philtrum
HP:0000347Micrognathia
HP:0000463Anteverted nares
HP:0000470Short neck
HP:0000582Upslanted palpebral fissure
HP:0001249Intellectual disability
HP:0003196Short nose
HP:0004209Clinodactyly of the 5th finger
HP:0004422Biparietal narrowing
HP:0005280Depressed nasal bridge
HP:0010458Female pseudohermaphroditism
HP:0100720Hypoplasia of the ear cartilage
Частый (30–79%)20
HP:0000191Accessory oral frenulum
HP:0000233Thin vermilion border
HP:0000486Strabismus
HP:0000767Pectus excavatum
HP:0000960Sacral dimple
HP:0001250Seizure
HP:0001252Hypotonia
HP:0001373Joint dislocation
HP:0001376Limitation of joint mobility
HP:0001531Failure to thrive in infancy
HP:0001582Redundant skin
HP:0001883Talipes
HP:0002983Micromelia
HP:0003083Dislocated radial head
HP:0004322Short stature
HP:0004378Abnormality of the anus
HP:0007598Bilateral single transverse palmar creases
HP:0007601Midline facial capillary hemangioma
HP:0010978Abnormality of immune system physiology
HP:0030680Abnormal cardiovascular system morphology
Периодический (5–29%)14
HP:0000003Multicystic kidney dysplasia
HP:0000085Horseshoe kidney
HP:0000175Cleft palate
HP:0000776Congenital diaphragmatic hernia
HP:0001161Hand polydactyly
HP:0001522Death in infancy
HP:0001539Omphalocele
HP:0001561Polyhydramnios
HP:0001770Toe syndactyly
HP:0002019Constipation
HP:0007370Aplasia/Hypoplasia of the corpus callosum
HP:0008678Renal hypoplasia/aplasia
HP:0010318Aplasia/Hypoplasia of the abdominal wall musculature
HP:0010720Abnormal hair pattern
Эпидемиология1
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | 1-9 / 1 000 000 | 0.11 | Europe | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)