Trisomy 4p syndrome
ORPHA:1738Malformation syndromeAntenatal, Infancy, Neonatal
Фенотипы (HPO)30
Очень частый (80–99%)20
HP:0000358Posteriorly rotated ears
HP:0000164Abnormality of the dentition
HP:0000174Abnormal palate morphology
HP:0000252Microcephaly
HP:0000294Low anterior hairline
HP:0000311Round face
HP:0000316Hypertelorism
HP:0000319Smooth philtrum
HP:0000400Macrotia
HP:0000470Short neck
HP:0000574Thick eyebrow
HP:0000670Carious teeth
HP:0001252Hypotonia
HP:0002916Abnormality of chromosome segregation
HP:0004322Short stature
HP:0005280Depressed nasal bridge
HP:0006610Wide intermamillary distance
HP:0009738Abnormality of the antihelix
HP:0010720Abnormal hair pattern
HP:0100543Cognitive impairment
Частый (30–79%)5
HP:0000028Cryptorchidism
HP:0000486Strabismus
HP:0002650Scoliosis
HP:0002750Delayed skeletal maturation
HP:0100490Camptodactyly of finger
Периодический (5–29%)5
HP:0000047Hypospadias
HP:0000581Blepharophimosis
HP:0001177Preaxial hand polydactyly
HP:0004059Radial club hand
HP:0030680Abnormal cardiovascular system morphology
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 85 | 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)