Ring chromosome 2 syndrome
ORPHA:96171Malformation syndromeAntenatal, Infancy, Neonatal
Фенотипы (HPO)25
Очень частый (80–99%)4
HP:0000252Microcephaly
HP:0000286Epicanthus
HP:0001511Intrauterine growth retardation
HP:0008897Postnatal growth retardation
Частый (30–79%)12
HP:0000316Hypertelorism
HP:0000341Narrow forehead
HP:0000343Long philtrum
HP:0000347Micrognathia
HP:0000369Low-set ears
HP:0000431Wide nasal bridge
HP:0000470Short neck
HP:0001263Global developmental delay
HP:0001562Oligohydramnios
HP:0002553Highly arched eyebrow
HP:0004209Clinodactyly of the 5th finger
HP:0008872Feeding difficulties in infancy
Периодический (5–29%)9
HP:0000028Cryptorchidism
HP:0000729Autistic behavior
HP:0000957Cafe-au-lait spot
HP:0001156Brachydactyly
HP:0001382Joint hypermobility
HP:0001643Patent ductus arteriosus
HP:0001671Abnormal cardiac septum morphology
HP:0001760Abnormal foot morphology
HP:0002650Scoliosis
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 18 | 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)