Atelosteogenesis type II
ORPHA:56304Malformation syndromeAutosomal recessiveInfancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)53
Очень частый (80–99%)1
HP:0009826Limb undergrowth
Частый (30–79%)33
HP:0000175Cleft palate
HP:0000470Short neck
HP:0000773Short ribs
HP:0000774Narrow chest
HP:0001156Brachydactyly
HP:0001193Ulnar deviation of the hand or of fingers of the hand
HP:0001230Broad metacarpals
HP:0001234Hitchhiker thumb
HP:0001591Bell-shaped thorax
HP:0001602Laryngeal stenosis
HP:0001776Bilateral talipes equinovarus
HP:0001840Metatarsus adductus
HP:0001852Sandal gap
HP:0001999Abnormal facial shape
HP:0002089Pulmonary hypoplasia
HP:0002786Tracheobronchomalacia
HP:0002857Genu valgum
HP:0003097Short femur
HP:0003423Thoracolumbar kyphoscoliosis
HP:0004991Rhizomelic arm shortening
HP:0005257Thoracic hypoplasia
HP:0006009Broad phalanx
HP:0006375Dumbbell-shaped femur
HP:0006385Short lower limbs
HP:0008110Equinovarus deformity
HP:0008752Laryngeal cartilage malformation
HP:0008905Rhizomelia
HP:0009803Short phalanx of finger
HP:0009824Upper limb undergrowth
HP:0010049Short metacarpal
HP:0012385Camptodactyly
HP:0012427Excessive femoral anteversion
HP:0100694Tibial torsion
Периодический (5–29%)18
HP:0000219Thin upper lip vermilion
HP:0000286Epicanthus
HP:0000316Hypertelorism
HP:0000343Long philtrum
HP:0000347Micrognathia
HP:0000369Low-set ears
HP:0000506Telecanthus
HP:0001357Plagiocephaly
HP:0001538Protuberant abdomen
HP:0001561Polyhydramnios
HP:0002947Cervical kyphosis
HP:0002983Micromelia
HP:0002987Elbow flexion contracture
HP:0004664Facial midline hemangioma
HP:0008434Hypoplastic cervical vertebrae
HP:0011800Midface retrusion
HP:0012810Wide nasal base
HP:0100337Bilateral cleft palate
Очень редкий (1–4%)1
HP:0003042Elbow dislocation
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 25 | 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)