Thrombocytopenia-absent radius syndrome
ORPHA:3320Malformation syndromeAutosomal recessiveAntenatal, Neonatal
Ассоциированные гены1
Фенотипы (HPO)34
Очень частый (80–99%)3
HP:0001873Thrombocytopenia
HP:0001928Abnormality of coagulation
HP:0003974Absent radius
Частый (30–79%)12
HP:0000337Broad forehead
HP:0000348High forehead
HP:0002673Coxa valga
HP:0002827Hip dislocation
HP:0002970Genu varum
HP:0002999Patellar dislocation
HP:0004209Clinodactyly of the 5th finger
HP:0006495Aplasia/Hypoplasia of the ulna
HP:0006498Aplasia/Hypoplasia of the patella
HP:0006507Aplasia/hypoplasia of the humerus
HP:0100694Tibial torsion
HP:0000358Posteriorly rotated ears
Периодический (5–29%)19
HP:0000077Abnormality of the kidney
HP:0000085Horseshoe kidney
HP:0000119Abnormality of the genitourinary system
HP:0000151Aplasia of the uterus
HP:0000175Cleft palate
HP:0000347Micrognathia
HP:0000407Sensorineural hearing impairment
HP:0000891Cervical ribs
HP:0001181Adducted thumb
HP:0001636Tetralogy of Fallot
HP:0001671Abnormal cardiac septum morphology
HP:0002650Scoliosis
HP:0002949Fused cervical vertebrae
HP:0002990Fibular aplasia
HP:0004717Axial malrotation of the kidney
HP:0006101Finger syndactyly
HP:0007413Nevus flammeus of the forehead
HP:0009829Phocomelia
HP:0011304Broad thumb
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Prevalence at birth | 1-9 / 1 000 000 | 0.5 | Europe | Value and class |
| Point prevalence | Unknown | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)