Multiple epiphyseal dysplasia type 4
ORPHA:93307DiseaseAutosomal recessiveChildhood
Ассоциированные гены1
Фенотипы (HPO)58
Очень частый (80–99%)3
HP:0002652Skeletal dysplasia
HP:0002654Multiple epiphyseal dysplasia
HP:0002829Arthralgia
Частый (30–79%)21
HP:0000347Micrognathia
HP:0001156Brachydactyly
HP:0001371Flexion contracture
HP:0001376Limitation of joint mobility
HP:0001387Joint stiffness
HP:0001762Talipes equinovarus
HP:0001776Bilateral talipes equinovarus
HP:0002515Waddling gait
HP:0002812Coxa vara
HP:0002857Genu valgum
HP:0002987Elbow flexion contracture
HP:0003071Flattened epiphysis
HP:0003088Premature osteoarthritis
HP:0003365Arthralgia of the hip
HP:0003498Disproportionate short stature
HP:0005616Accelerated skeletal maturation
HP:0008807Acetabular dysplasia
HP:0008848Moderately short stature
HP:0009824Upper limb undergrowth
HP:0030289Flattened femoral epiphysis
HP:0031174Double-layered patella
Периодический (5–29%)34
HP:0000175Cleft palate
HP:0000218High palate
HP:0000363Abnormality of earlobe
HP:0000369Low-set ears
HP:0000377Abnormal pinna morphology
HP:0001385Hip dysplasia
HP:0001440Metatarsal synostosis
HP:0001769Broad foot
HP:0001831Short toe
HP:0002650Scoliosis
HP:0002947Cervical kyphosis
HP:0002986Radial bowing
HP:0003016Metaphyseal widening
HP:0003031Ulnar bowing
HP:0004002Flattened radial epiphyses
HP:0004037Abnormality of the ulnar epiphyses
HP:0005922Abnormal hand morphology
HP:0006429Broad femoral neck
HP:0008434Hypoplastic cervical vertebrae
HP:0008829Delayed femoral head ossification
HP:0008905Rhizomelia
HP:0009381Short finger
HP:0009471Contracture of the proximal interphalangeal joint of the 3rd finger
HP:0009487Ulnar deviation of the hand
HP:0009778Short thumb
HP:0010049Short metacarpal
HP:0010743Short metatarsal
HP:0025264Stiff ankle
HP:0031006Acroparesthesia
HP:0031878Acromicria
HP:0032649Skewfoot
HP:0040072Abnormal forearm bone morphology
HP:0100864Short femoral neck
HP:0002827Hip dislocation
Эпидемиология1
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)