Pelvis-shoulder dysplasia
ORPHA:2839Malformation syndromeAutosomal dominantInfancy, Neonatal
Фенотипы (HPO)41
Очень частый (80–99%)1
HP:0005775Multiple skeletal anomalies
Частый (30–79%)40
HP:0000062Ambiguous genitalia
HP:0000126Hydronephrosis
HP:0000171Microglossia
HP:0000175Cleft palate
HP:0000238Hydrocephalus
HP:0000347Micrognathia
HP:0000377Abnormal pinna morphology
HP:0000480Retinal coloboma
HP:0000482Microcornea
HP:0000612Iris coloboma
HP:0000890Long clavicles
HP:0001159Syndactyly
HP:0001591Bell-shaped thorax
HP:0001762Talipes equinovarus
HP:0002324Hydranencephaly
HP:0002414Spina bifida
HP:0002515Waddling gait
HP:0002938Lumbar hyperlordosis
HP:0003083Dislocated radial head
HP:0003173Hypoplastic pubic bone
HP:0003175Hypoplastic ischia
HP:0003312Abnormal form of the vertebral bodies
HP:0004322Short stature
HP:0005026Mesomelic/rhizomelic limb shortening
HP:0005613Aplasia/hypoplasia of the femur
HP:0005769Fifth finger distal phalanx clinodactyly
HP:0006077Absent proximal finger flexion creases
HP:0006492Aplasia/Hypoplasia of the fibula
HP:0006710Aplasia/Hypoplasia of the clavicles
HP:0006712Aplasia/Hypoplasia of the ribs
HP:0006713Aplasia/Hypoplasia of the scapulae
HP:0007633Bilateral microphthalmos
HP:0008472Prominent protruding coccyx
HP:0008551Microtia
HP:0008807Acetabular dysplasia
HP:0008857Neonatal short-trunk short stature
HP:0009100Thick anterior alveolar ridges
HP:0009937Facial hirsutism
HP:0012745Short palpebral fissure
HP:0100490Camptodactyly of finger
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 10 | 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)