Diastrophic dysplasia
ORPHA:628DiseaseAutosomal recessiveAntenatal, Neonatal
Ассоциированные гены1
Фенотипы (HPO)64
Очень частый (80–99%)21
HP:0000256Macrocephaly
HP:0000772Abnormal rib morphology
HP:0000889Abnormality of the clavicle
HP:0000944Abnormal metaphysis morphology
HP:0001511Intrauterine growth retardation
HP:0002650Scoliosis
HP:0002983Micromelia
HP:0003312Abnormal form of the vertebral bodies
HP:0004322Short stature
HP:0005280Depressed nasal bridge
HP:0005916Abnormal metacarpal morphology
HP:0005930Abnormality of epiphysis morphology
HP:0006487Bowing of the long bones
HP:0008434Hypoplastic cervical vertebrae
HP:0008921Neonatal short-limb short stature
HP:0009381Short finger
HP:0009623Proximal placement of thumb
HP:0009748Large earlobe
HP:0009773Symphalangism affecting the phalanges of the hand
HP:0011001Increased bone mineral density
HP:0011800Midface retrusion
Частый (30–79%)24
HP:0000175Cleft palate
HP:0000293Full cheeks
HP:0000316Hypertelorism
HP:0000396Overfolded helix
HP:0000430Underdeveloped nasal alae
HP:0000592Blue sclerae
HP:0001234Hitchhiker thumb
HP:0001252Hypotonia
HP:0001373Joint dislocation
HP:0001385Hip dysplasia
HP:0001387Joint stiffness
HP:0001762Talipes equinovarus
HP:0001852Sandal gap
HP:0002205Recurrent respiratory infections
HP:0002808Kyphosis
HP:0002857Genu valgum
HP:0002938Lumbar hyperlordosis
HP:0002947Cervical kyphosis
HP:0005619Thoracolumbar kyphosis
HP:0005857Cervical spina bifida
HP:0009465Ulnar deviation of finger
HP:0034392Joint contracture
HP:0100490Camptodactyly of finger
HP:0000358Posteriorly rotated ears
Периодический (5–29%)19
HP:0000028Cryptorchidism
HP:0000160Narrow mouth
HP:0000337Broad forehead
HP:0000347Micrognathia
HP:0000365Hearing impairment
HP:0000402Stenosis of the external auditory canal
HP:0000460Narrow nose
HP:0000494Downslanted palpebral fissures
HP:0000974Hyperextensible skin
HP:0001156Brachydactyly
HP:0002093Respiratory insufficiency
HP:0002176Spinal cord compression
HP:0002514Cerebral calcification
HP:0003042Elbow dislocation
HP:0004209Clinodactyly of the 5th finger
HP:0006536Airway obstruction
HP:0009890High anterior hairline
HP:0100761Visceral angiomatosis
HP:0001382Joint hypermobility
Эпидемиология3
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | 1-9 / 100 000 | 1.2 | Europe | Value and class |
| Prevalence at birth | 1-9 / 1 000 000 | 0.3 | Europe | Value and class |
| Point prevalence | 1-9 / 100 000 | 3.03 | Finland | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)