Blomstrand lethal chondrodysplasia
ORPHA:50945Malformation syndromeAutosomal recessiveAntenatal, Neonatal
Ассоциированные гены1
Фенотипы (HPO)37
Очень частый (80–99%)28
HP:0000272Malar flattening
HP:0000347Micrognathia
HP:0000369Low-set ears
HP:0000506Telecanthus
HP:0000518Cataract
HP:0000520Proptosis
HP:0000773Short ribs
HP:0000774Narrow chest
HP:0000916Broad clavicles
HP:0000926Platyspondyly
HP:0001538Protuberant abdomen
HP:0001561Polyhydramnios
HP:0001622Premature birth
HP:0002089Pulmonary hypoplasia
HP:0003015Flared metaphysis
HP:0003021Metaphyseal cupping
HP:0003027Mesomelia
HP:0003196Short nose
HP:0005280Depressed nasal bridge
HP:0005616Accelerated skeletal maturation
HP:0005716Lethal skeletal dysplasia
HP:0005930Abnormality of epiphysis morphology
HP:0006402Distal shortening of limbs
HP:0006660Aplastic clavicles
HP:0008905Rhizomelia
HP:0008921Neonatal short-limb short stature
HP:0010306Short thorax
HP:0011001Increased bone mineral density
Частый (30–79%)8
HP:0000343Long philtrum
HP:0000463Anteverted nares
HP:0000695Natal tooth
HP:0001789Hydrops fetalis
HP:0006487Bowing of the long bones
HP:0010049Short metacarpal
HP:0010808Protruding tongue
HP:0100240Synostosis of joints
Периодический (5–29%)1
HP:0001680Coarctation of aorta
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 13 | 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)