Axial spondylometaphyseal dysplasia
ORPHA:168549DiseaseAutosomal recessiveChildhood, Infancy
Фенотипы (HPO)47
Очень частый (80–99%)15
HP:0000510Rod-cone dystrophy
HP:0000556Retinal dystrophy
HP:0000773Short ribs
HP:0000774Narrow chest
HP:0000886Deformed rib cage
HP:0000887Cupped ribs
HP:0001510Growth delay
HP:0002867Abnormality of the ilium
HP:0004322Short stature
HP:0005257Thoracic hypoplasia
HP:0006431Proximal femoral metaphyseal abnormality
HP:0007663Reduced visual acuity
HP:0008786Iliac crest serration
HP:0009824Upper limb undergrowth
HP:0045027Abnormality of the thoracic cavity
Частый (30–79%)12
HP:0000926Platyspondyly
HP:0002643Neonatal respiratory distress
HP:0002812Coxa vara
HP:0003411Proximal femoral metaphyseal irregularity
HP:0005916Abnormal metacarpal morphology
HP:0006589Flaring of lower rib cage
HP:0006603Flared, irregular rib ends
HP:0006712Aplasia/Hypoplasia of the ribs
HP:0008515Aplasia/Hypoplasia of the vertebrae
HP:0008812Flattened femoral head
HP:0011947Respiratory tract infection
HP:0012774Increased upper to lower segment ratio
Периодический (5–29%)20
HP:0000508Ptosis
HP:0000518Cataract
HP:0000613Photophobia
HP:0000639Nystagmus
HP:0000646Amblyopia
HP:0000648Optic atrophy
HP:0000938Osteopenia
HP:0001216Delayed ossification of carpal bones
HP:0001530Mild postnatal growth retardation
HP:0002650Scoliosis
HP:0002866Hypoplastic iliac wing
HP:0002943Thoracic scoliosis
HP:0003086Acromesomelia
HP:0003180Flat acetabular roof
HP:0003375Narrow greater sciatic notch
HP:0003521Disproportionate short-trunk short stature
HP:0007641Dyschromatopsia
HP:0007769Peripheral retinal degeneration
HP:0008444Posterior wedging of vertebral bodies
HP:0100864Short femoral neck
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 13 | 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)