Trisomy 8q syndrome
ORPHA:1752Malformation syndromeUnknownNeonatal
Фенотипы (HPO)30
Очень частый (80–99%)12
HP:0000232Everted lower lip vermilion
HP:0000316Hypertelorism
HP:0000347Micrognathia
HP:0000348High forehead
HP:0000431Wide nasal bridge
HP:0000470Short neck
HP:0000582Upslanted palpebral fissure
HP:0001263Global developmental delay
HP:0001328Specific learning disability
HP:0002916Abnormality of chromosome segregation
HP:0010751Chin dimple
HP:0100818Long thorax
Частый (30–79%)12
HP:0000358Posteriorly rotated ears
HP:0000028Cryptorchidism
HP:0000175Cleft palate
HP:0000190Abnormal oral frenulum morphology
HP:0000218High palate
HP:0000411Protruding ear
HP:0001387Joint stiffness
HP:0008736Hypoplasia of penis
HP:0010297Bifid tongue
HP:0030680Abnormal cardiovascular system morphology
HP:0100335Non-midline cleft of the upper lip
HP:0100627Displacement of the urethral meatus
Периодический (5–29%)6
HP:0000202Orofacial cleft
HP:0001156Brachydactyly
HP:0002475Myelomeningocele
HP:0006191Deep palmar crease
HP:0012062Bone cyst
HP:0100490Camptodactyly of finger
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 30 | 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)