Thanatophoric dysplasia type 2
ORPHA:93274Clinical subtypeAutosomal dominant, Not applicableInfancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)35
Очень частый (80–99%)18
HP:0000256Macrocephaly
HP:0000774Narrow chest
HP:0000926Platyspondyly
HP:0000944Abnormal metaphysis morphology
HP:0001156Brachydactyly
HP:0001252Hypotonia
HP:0001582Redundant skin
HP:0002093Respiratory insufficiency
HP:0002652Skeletal dysplasia
HP:0002676Cloverleaf skull
HP:0002983Micromelia
HP:0004322Short stature
HP:0005280Depressed nasal bridge
HP:0006703Aplasia/Hypoplasia of the lungs
HP:0010306Short thorax
HP:0012368Flat face
HP:0100543Cognitive impairment
HP:0001382Joint hypermobility
Частый (30–79%)8
HP:0000365Hearing impairment
HP:0000520Proptosis
HP:0001250Seizure
HP:0001561Polyhydramnios
HP:0002007Frontal bossing
HP:0002119Ventriculomegaly
HP:0002808Kyphosis
HP:0010880Increased nuchal translucency
Периодический (5–29%)9
HP:0000077Abnormality of the kidney
HP:0000238Hydrocephalus
HP:0000956Acanthosis nigricans
HP:0001360Holoprosencephaly
HP:0001376Limitation of joint mobility
HP:0001631Atrial septal defect
HP:0001643Patent ductus arteriosus
HP:0002084Encephalocele
HP:0002269Abnormality of neuronal migration
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)