Atelosteogenesis type I
ORPHA:1190Malformation syndromeAutosomal dominantAntenatal, Neonatal
Ассоциированные гены1
Фенотипы (HPO)32
Частый (30–79%)13
HP:0000774Narrow chest
HP:0001156Brachydactyly
HP:0001762Talipes equinovarus
HP:0002089Pulmonary hypoplasia
HP:0002991Abnormal fibula morphology
HP:0003097Short femur
HP:0003417Coronal cleft vertebrae
HP:0004599Absent or minimally ossified vertebral bodies
HP:0005257Thoracic hypoplasia
HP:0008905Rhizomelia
HP:0009107Abnormal ossification involving the femoral head and neck
HP:0009826Limb undergrowth
HP:0011800Midface retrusion
Периодический (5–29%)19
HP:0000175Cleft palate
HP:0000316Hypertelorism
HP:0000347Micrognathia
HP:0000369Low-set ears
HP:0000506Telecanthus
HP:0000520Proptosis
HP:0000926Platyspondyly
HP:0001373Joint dislocation
HP:0001561Polyhydramnios
HP:0001602Laryngeal stenosis
HP:0002280Enlarged cisterna magna
HP:0002650Scoliosis
HP:0003026Short long bone
HP:0004785Malrotation of colon
HP:0004894Laryngotracheal stenosis
HP:0005562Multiple renal cysts
HP:0007973Retinal dysplasia
HP:0008857Neonatal short-trunk short stature
HP:0030992Abnormal pancreatic duct morphology
Эпидемиология1
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| 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)