Thanatophoric dysplasia
ORPHA:2655DiseaseAutosomal dominant, Not applicableAntenatal, Neonatal
Фенотипы (HPO)41
Очень частый (80–99%)15
HP:0000256Macrocephaly
HP:0000774Narrow chest
HP:0000926Platyspondyly
HP:0000944Abnormal metaphysis morphology
HP:0001252Hypotonia
HP:0001582Redundant skin
HP:0002089Pulmonary hypoplasia
HP:0002187Intellectual disability, profound
HP:0002652Skeletal dysplasia
HP:0002983Micromelia
HP:0005280Depressed nasal bridge
HP:0008873Disproportionate short-limb short stature
HP:0010306Short thorax
HP:0010880Increased nuchal translucency
HP:0012368Flat face
Частый (30–79%)8
HP:0000365Hearing impairment
HP:0000520Proptosis
HP:0001156Brachydactyly
HP:0001511Intrauterine growth retardation
HP:0002007Frontal bossing
HP:0002119Ventriculomegaly
HP:0002282Gray matter heterotopia
HP:0011800Midface retrusion
Периодический (5–29%)18
HP:0001382Joint hypermobility
HP:0000077Abnormality of the kidney
HP:0000238Hydrocephalus
HP:0000369Low-set ears
HP:0000494Downslanted palpebral fissures
HP:0000956Acanthosis nigricans
HP:0001250Seizure
HP:0001385Hip dysplasia
HP:0001387Joint stiffness
HP:0001561Polyhydramnios
HP:0001631Atrial septal defect
HP:0001643Patent ductus arteriosus
HP:0002093Respiratory insufficiency
HP:0002676Cloverleaf skull
HP:0002808Kyphosis
HP:0002867Abnormality of the ilium
HP:0030680Abnormal cardiovascular system morphology
HP:0100781Abnormality of the sacroiliac joint
Эпидемиология9
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Prevalence at birth | 1-9 / 100 000 | 3.5 | Europe | Value and class |
| Point prevalence | <1 / 1 000 000 | — | Europe | Class only |
| Prevalence at birth | 1-9 / 100 000 | 2.8 | France | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 3.5 | Italy | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 1.7 | Sweden | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 3.8 | Denmark | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 8 | Ireland | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 4.7 | Latin America | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 4.3 | United States | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)