Joubert syndrome with Jeune asphyxiating thoracic dystrophy
ORPHA:397715Malformation syndromeAutosomal recessiveNeonatal
Ассоциированные гены2
Фенотипы (HPO)73
Частый (30–79%)10
HP:0000657Oculomotor apraxia
HP:0001290Generalized hypotonia
HP:0001321Cerebellar hypoplasia
HP:0001508Failure to thrive
HP:0002007Frontal bossing
HP:0002119Ventriculomegaly
HP:0002419Molar tooth sign on MRI
HP:0002789Tachypnea
HP:0004719Hyperechogenic kidneys
HP:0011933Elongated superior cerebellar peduncle
Периодический (5–29%)63
HP:0000047Hypospadias
HP:0000083Renal insufficiency
HP:0000110Renal dysplasia
HP:0000286Epicanthus
HP:0000316Hypertelorism
HP:0000347Micrognathia
HP:0000358Posteriorly rotated ears
HP:0000369Low-set ears
HP:0000396Overfolded helix
HP:0000545Myopia
HP:0000556Retinal dystrophy
HP:0000572Visual loss
HP:0000773Short ribs
HP:0000803Renal cortical cysts
HP:0000890Long clavicles
HP:0001156Brachydactyly
HP:0001263Global developmental delay
HP:0001273Abnormal corpus callosum morphology
HP:0001305Dandy-Walker malformation
HP:0001317Abnormal cerebellum morphology
HP:0001320Cerebellar vermis hypoplasia
HP:0001331Absent septum pellucidum
HP:0001344Absent speech
HP:0001591Bell-shaped thorax
HP:0002020Gastroesophageal reflux
HP:0002085Occipital encephalocele
HP:0002100Recurrent aspiration pneumonia
HP:0002104Apnea
HP:0002134Abnormality of the basal ganglia
HP:0002195Dysgenesis of the cerebellar vermis
HP:0002205Recurrent respiratory infections
HP:0002280Enlarged cisterna magna
HP:0002435Meningocele
HP:0002516Increased intracranial pressure
HP:0002558Supernumerary nipple
HP:0002910Elevated circulating hepatic transaminase concentration
HP:0003170Abnormality of the acetabulum
HP:0003411Proximal femoral metaphyseal irregularity
HP:0004322Short stature
HP:0004629Small cervical vertebral bodies
HP:0004991Rhizomelic arm shortening
HP:0005257Thoracic hypoplasia
HP:0005280Depressed nasal bridge
HP:0005989Redundant neck skin
HP:0006528Chronic lung disease
HP:0006610Wide intermamillary distance
HP:0006668Twelfth rib hypoplasia
HP:0006711Aplasia/Hypoplasia involving bones of the thorax
HP:0006956Dilation of lateral ventricles
HP:0007082Dilated third ventricle
HP:0008445Cervical spinal canal stenosis
HP:0008797Early ossification of capital femoral epiphyses
HP:0009921Duane anomaly
HP:0010013Abnormality of the 5th metacarpal
HP:0010579Cone-shaped epiphysis
HP:0011927Short digit
HP:0011968Feeding difficulties
HP:0012106Rhizomelic leg shortening
HP:0012795Abnormality of the optic disc
HP:0030048Colpocephaly
HP:0031528Subretinal deposits
HP:0100259Postaxial polydactyly
HP:0100954Open operculum
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 8 | 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)