Autosomal recessive otospondylomegaepiphyseal dysplasia
ORPHA:1427DiseaseAutosomal recessiveAntenatal, Neonatal
Ассоциированные гены1
Фенотипы (HPO)43
Очень частый (80–99%)8
HP:0000407Sensorineural hearing impairment
HP:0000463Anteverted nares
HP:0001367Abnormal joint morphology
HP:0003468Abnormal vertebral morphology
HP:0003498Disproportionate short stature
HP:0005280Depressed nasal bridge
HP:0011800Midface retrusion
HP:0040163Abnormal pelvis bone morphology
Частый (30–79%)10
HP:0000175Cleft palate
HP:0000193Bifid uvula
HP:0000347Micrognathia
HP:0001156Brachydactyly
HP:0002656Epiphyseal dysplasia
HP:0006375Dumbbell-shaped femur
HP:0009826Limb undergrowth
HP:0011314Abnormality of long bone morphology
HP:0011867Abnormality of the wing of the ilium
HP:0012368Flat face
Периодический (5–29%)18
HP:0000162Glossoptosis
HP:0000358Posteriorly rotated ears
HP:0000470Short neck
HP:0000520Proptosis
HP:0000926Platyspondyly
HP:0001376Limitation of joint mobility
HP:0001561Polyhydramnios
HP:0001852Sandal gap
HP:0002758Osteoarthritis
HP:0002834Flared femoral metaphysis
HP:0002938Lumbar hyperlordosis
HP:0002982Tibial bowing
HP:0003037Enlarged joints
HP:0003417Coronal cleft vertebrae
HP:0009803Short phalanx of finger
HP:0010049Short metacarpal
HP:0010502Fibular bowing
HP:0100569Abnormally ossified vertebrae
Очень редкий (1–4%)3
HP:0000486Strabismus
HP:0000540Hypermetropia
HP:0025573Mild myopia
Исключён (0%)4
HP:0000518Cataract
HP:0000541Retinal detachment
HP:0007964Degenerative vitreoretinopathy
HP:0011003High myopia
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 30 | 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)