Achondroplasia
ORPHA:15DiseaseAutosomal dominantAntenatal, Neonatal
Ассоциированные гены1
Фенотипы (HPO)39
Очень частый (80–99%)5
HP:0002808Kyphosis
HP:0002979Bowing of the legs
HP:0003498Disproportionate short stature
HP:0005619Thoracolumbar kyphosis
HP:0009826Limb undergrowth
Частый (30–79%)23
HP:0000242Parietal bossing
HP:0000256Macrocephaly
HP:0000309Abnormal midface morphology
HP:0000365Hearing impairment
HP:0000463Anteverted nares
HP:0001156Brachydactyly
HP:0001377Limited elbow extension
HP:0002007Frontal bossing
HP:0002870Obstructive sleep apnea
HP:0002938Lumbar hyperlordosis
HP:0003026Short long bone
HP:0003194Short nasal bridge
HP:0003416Spinal canal stenosis
HP:0004060Trident hand
HP:0005280Depressed nasal bridge
HP:0005819Short middle phalanx of finger
HP:0008445Cervical spinal canal stenosis
HP:0008947Floppy infant
HP:0010241Short proximal phalanx of finger
HP:0010536Central sleep apnea
HP:0011452Functional abnormality of the middle ear
HP:0045086Knee joint hypermobility
HP:0045087Hip joint hypermobility
Периодический (5–29%)10
HP:0000260Wide anterior fontanel
HP:0000956Acanthosis nigricans
HP:0001513Obesity
HP:0002091Restrictive ventilatory defect
HP:0003180Flat acetabular roof
HP:0003375Narrow greater sciatic notch
HP:0005257Thoracic hypoplasia
HP:0008905Rhizomelia
HP:0011867Abnormality of the wing of the ilium
HP:0012418Hypoxemia
Очень редкий (1–4%)1
HP:0000238Hydrocephalus
Эпидемиология31
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Prevalence at birth | 1-9 / 100 000 | 4.73 | Worldwide | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 3.62 | Europe | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 5.645 | France | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 3.7 | Italy | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 4.195 | Sweden | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 2.6466 | Spain | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 2.37 | Denmark | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 3.2 | Latin America | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 3.8 | Australia | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 3.63 | Switzerland | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 3.7877 | United Kingdom | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 6 | Ukraine | Value and class |
| Prevalence at birth | 6-9 / 10 000 | 79.05 | Iraq | Value and class |
| Prevalence at birth | 1-5 / 10 000 | 36.73 | Iran, Islamic Republic of | Value and class |
| Prevalence at birth | 1-5 / 10 000 | 12.92 | Kuwait | Value and class |
| Prevalence at birth | 1-5 / 10 000 | 25.87 | Lebanon | Value and class |
| Prevalence at birth | 1-5 / 10 000 | 48.14 | Saudi Arabia | Value and class |
| Prevalence at birth | 1-5 / 10 000 | 10.51 | United Arab Emirates | Value and class |
| Prevalence at birth | 1-5 / 10 000 | 16.53 | Cameroon | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 4 | North America | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 4.42 | Cuba | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 6.75 | Mexico | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 4.75 | Argentina | Value and class |
| Prevalence at birth | 1-5 / 10 000 | 14.25 | Venezuela | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 4.76 | Germany | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 6.35 | Malta | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 3.01 | Netherlands | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 2.39 | Norway | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 4.47 | Poland | Value and class |
| Prevalence at birth | 1-5 / 10 000 | 18.11 | Nigeria | Value and class |
| Point prevalence | Unknown | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)