Lethal Kniest-like dysplasia
ORPHA:2347Malformation syndromeAutosomal recessiveNeonatal
Фенотипы (HPO)27
Частый (30–79%)27
HP:0000175Cleft palate
HP:0000256Macrocephaly
HP:0000260Wide anterior fontanel
HP:0000369Low-set ears
HP:0000470Short neck
HP:0000773Short ribs
HP:0000774Narrow chest
HP:0000907Anterior rib cupping
HP:0000926Platyspondyly
HP:0000946Hypoplastic ilia
HP:0000969Edema
HP:0001156Brachydactyly
HP:0001538Protuberant abdomen
HP:0001561Polyhydramnios
HP:0001623Breech presentation
HP:0001631Atrial septal defect
HP:0001762Talipes equinovarus
HP:0002763Abnormal cartilage morphology
HP:0003015Flared metaphysis
HP:0003174Abnormality of the ischium
HP:0003417Coronal cleft vertebrae
HP:0005026Mesomelic/rhizomelic limb shortening
HP:0005622Broad long bones
HP:0008178Abnormal cartilage matrix
HP:0008479Hypoplastic vertebral bodies
HP:0008890Severe short-limb dwarfism
HP:0012368Flat face
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 2 | 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)