Spondylometaphyseal dysplasia, 'corner fracture' type
ORPHA:93315DiseaseAutosomal dominantChildhood, Infancy, Neonatal
Ассоциированные гены2
Фенотипы (HPO)54
Очень частый (80–99%)6
HP:0002812Coxa vara
HP:0003025Metaphyseal irregularity
HP:0003300Ovoid vertebral bodies
HP:0003468Abnormal vertebral morphology
HP:0003908Corner fracture of metaphysis
HP:0004322Short stature
Частый (30–79%)11
HP:0000768Pectus carinatum
HP:0001376Limitation of joint mobility
HP:0002650Scoliosis
HP:0002857Genu valgum
HP:0002970Genu varum
HP:0003026Short long bone
HP:0003521Disproportionate short-trunk short stature
HP:0006385Short lower limbs
HP:0009763Limb pain
HP:0009824Upper limb undergrowth
HP:0011849Abnormal bone ossification
Периодический (5–29%)23
HP:0000218High palate
HP:0000307Pointed chin
HP:0000324Facial asymmetry
HP:0000358Posteriorly rotated ears
HP:0000384Preauricular skin tag
HP:0000385Small earlobe
HP:0000411Protruding ear
HP:0000505Visual impairment
HP:0000520Proptosis
HP:0000545Myopia
HP:0000926Platyspondyly
HP:0002938Lumbar hyperlordosis
HP:0002945Intervertebral space narrowing
HP:0002948Vertebral fusion
HP:0002982Tibial bowing
HP:0004586Biconcave vertebral bodies
HP:0004625Biconvex vertebral bodies
HP:0008417Vertebral hypoplasia
HP:0008422Vertebral wedging
HP:0008577Underfolded helix
HP:0009896Abnormality of the antitragus
HP:0012368Flat face
HP:0100559Lower limb asymmetry
Очень редкий (1–4%)14
HP:0000164Abnormality of the dentition
HP:0000470Short neck
HP:0000486Strabismus
HP:0001891Iron deficiency anemia
HP:0002659Increased susceptibility to fractures
HP:0002866Hypoplastic iliac wing
HP:0004349Reduced bone mineral density
HP:0005743Avascular necrosis of the capital femoral epiphysis
HP:0007906Ocular hypertension
HP:0008440C1-C2 vertebral abnormality
HP:0009882Short distal phalanx of finger
HP:0030084Clinodactyly
HP:0031427Abnormal circulating osteocalcin level
HP:0032208Increased urinary type 1 collagen N-terminal telopeptide level
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)