Achondrogenesis
ORPHA:932DiseaseAutosomal dominant, Autosomal recessiveAntenatal, Neonatal
Фенотипы (HPO)23
Очень частый (80–99%)18
HP:0000256Macrocephaly
HP:0000343Long philtrum
HP:0000347Micrognathia
HP:0000463Anteverted nares
HP:0000470Short neck
HP:0000474Thickened nuchal skin fold
HP:0000774Narrow chest
HP:0001789Hydrops fetalis
HP:0002007Frontal bossing
HP:0002652Skeletal dysplasia
HP:0002983Micromelia
HP:0003196Short nose
HP:0003336Abnormal enchondral ossification
HP:0003510Severe short stature
HP:0004348Abnormality of bone mineral density
HP:0006703Aplasia/Hypoplasia of the lungs
HP:0010306Short thorax
HP:0012368Flat face
Частый (30–79%)3
HP:0000023Inguinal hernia
HP:0001537Umbilical hernia
HP:0001561Polyhydramnios
Периодический (5–29%)2
HP:0000476Cystic hygroma
HP:0030680Abnormal cardiovascular system morphology
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Prevalence at birth | 1-9 / 100 000 | 2.8 | France | Value and class |
| Point prevalence | Unknown | — | Europe | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)