Ring chromosome 3 syndrome
ORPHA:96172Malformation syndromeAntenatal, Infancy, Neonatal
Фенотипы (HPO)21
Очень частый (80–99%)2
HP:0000252Microcephaly
HP:0008897Postnatal growth retardation
Частый (30–79%)12
HP:0000286Epicanthus
HP:0000308Microretrognathia
HP:0000325Triangular face
HP:0000343Long philtrum
HP:0000377Abnormal pinna morphology
HP:0000431Wide nasal bridge
HP:0001156Brachydactyly
HP:0001249Intellectual disability
HP:0001511Intrauterine growth retardation
HP:0002714Downturned corners of mouth
HP:0004322Short stature
HP:0030084Clinodactyly
Периодический (5–29%)7
HP:0000047Hypospadias
HP:0000218High palate
HP:0000508Ptosis
HP:0000574Thick eyebrow
HP:0001252Hypotonia
HP:0001531Failure to thrive in infancy
HP:0008872Feeding difficulties in infancy
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 11 | 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)