Larsen-like osseous dysplasia-short stature syndrome
ORPHA:2370Malformation syndromeNeonatal
Фенотипы (HPO)21
Очень частый (80–99%)11
HP:0000944Abnormal metaphysis morphology
HP:0001156Brachydactyly
HP:0001385Hip dysplasia
HP:0002644Abnormality of pelvic girdle bone morphology
HP:0002650Scoliosis
HP:0002652Skeletal dysplasia
HP:0003312Abnormal form of the vertebral bodies
HP:0004209Clinodactyly of the 5th finger
HP:0004322Short stature
HP:0004349Reduced bone mineral density
HP:0005916Abnormal metacarpal morphology
Частый (30–79%)2
HP:0000520Proptosis
HP:0001511Intrauterine growth retardation
Периодический (5–29%)8
HP:0000160Narrow mouth
HP:0000233Thin vermilion border
HP:0000486Strabismus
HP:0001263Global developmental delay
HP:0001671Abnormal cardiac septum morphology
HP:0003196Short nose
HP:0007957Corneal opacity
HP:0000358Posteriorly rotated ears
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 3 | 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)