Thanatophoric dysplasia type 1
ORPHA:1860Clinical subtypeAutosomal dominant, Not applicableAntenatal, Neonatal
Ассоциированные гены1
Фенотипы (HPO)40
Очень частый (80–99%)21
HP:0000256Macrocephaly
HP:0000774Narrow chest
HP:0000926Platyspondyly
HP:0000944Abnormal metaphysis morphology
HP:0000946Hypoplastic ilia
HP:0001156Brachydactyly
HP:0001171Split hand
HP:0001252Hypotonia
HP:0001582Redundant skin
HP:0002093Respiratory insufficiency
HP:0002187Intellectual disability, profound
HP:0002652Skeletal dysplasia
HP:0002980Femoral bowing
HP:0002983Micromelia
HP:0003097Short femur
HP:0003185Short greater sciatic notch
HP:0005280Depressed nasal bridge
HP:0006487Bowing of the long bones
HP:0008909Lethal short-limbed short stature
HP:0012368Flat face
HP:0100781Abnormality of the sacroiliac joint
Частый (30–79%)10
HP:0000260Wide anterior fontanel
HP:0000365Hearing impairment
HP:0000520Proptosis
HP:0001561Polyhydramnios
HP:0002007Frontal bossing
HP:0002119Ventriculomegaly
HP:0002808Kyphosis
HP:0006703Aplasia/Hypoplasia of the lungs
HP:0007392Excessive wrinkled skin
HP:0010880Increased nuchal translucency
Периодический (5–29%)9
HP:0000077Abnormality of the kidney
HP:0000238Hydrocephalus
HP:0000956Acanthosis nigricans
HP:0001250Seizure
HP:0001387Joint stiffness
HP:0001631Atrial septal defect
HP:0001643Patent ductus arteriosus
HP:0002282Gray matter heterotopia
HP:0002676Cloverleaf skull
Эпидемиология1
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)