De Barsy syndrome
ORPHA:2962DiseaseAutosomal recessiveAntenatal, Infancy, Neonatal
Фенотипы (HPO)66
Очень частый (80–99%)52
HP:0001611Hypernasal speech
HP:0001762Talipes equinovarus
HP:0001788Premature rupture of membranes
HP:0001884Talipes calcaneovalgus
HP:0002305Athetosis
HP:0002645Wormian bones
HP:0002750Delayed skeletal maturation
HP:0002751Kyphoscoliosis
HP:0002761Generalized joint laxity
HP:0002812Coxa vara
HP:0003199Decreased muscle mass
HP:0004322Short stature
HP:0005272Prominent nasolabial fold
HP:0005328Progeroid facial appearance
HP:0005425Recurrent sinopulmonary infections
HP:0007457Prominent veins on trunk
HP:0007957Corneal opacity
HP:0008070Sparse hair
HP:0008897Postnatal growth retardation
HP:0008947Floppy infant
HP:0009125Lipodystrophy
HP:0009748Large earlobe
HP:0010648Dermal translucency
HP:0011003High myopia
HP:0011220Prominent forehead
HP:0025167Fragmented elastic fibers in the dermis
HP:0200141Small, conical teeth
HP:0000023Inguinal hernia
HP:0000160Narrow mouth
HP:0000218High palate
HP:0000248Brachycephaly
HP:0000253Progressive microcephaly
HP:0000286Epicanthus
HP:0000316Hypertelorism
HP:0000369Low-set ears
HP:0000490Deeply set eye
HP:0000494Downslanted palpebral fissures
HP:0000684Delayed eruption of teeth
HP:0000750Delayed speech and language development
HP:0000767Pectus excavatum
HP:0000938Osteopenia
HP:0000963Thin skin
HP:0000973Cutis laxa
HP:0001181Adducted thumb
HP:0001263Global developmental delay
HP:0001347Hyperreflexia
HP:0001374Congenital hip dislocation
HP:0001476Delayed closure of the anterior fontanelle
HP:0001508Failure to thrive
HP:0001511Intrauterine growth retardation
HP:0001537Umbilical hernia
HP:0001558Decreased fetal movement
Частый (30–79%)8
HP:0000518Cataract
HP:0000592Blue sclerae
HP:0001273Abnormal corpus callosum morphology
HP:0001320Cerebellar vermis hypoplasia
HP:0001629Ventricular septal defect
HP:0002073Progressive cerebellar ataxia
HP:0007392Excessive wrinkled skin
HP:0030604Abnormal fundus fluorescein angiography
Периодический (5–29%)5
HP:0000028Cryptorchidism
HP:0001643Patent ductus arteriosus
HP:0005301Persistent left superior vena cava
HP:0008619Bilateral sensorineural hearing impairment
HP:0012304Hypoplastic aortic arch
Исключён (0%)1
HP:0002097Emphysema
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 40 | 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)