17q24.2 microdeletion syndrome
ORPHA:529962Malformation syndromeNot applicableAntenatal, Neonatal
Ассоциированные гены2
Фенотипы (HPO)47
Очень частый (80–99%)3
HP:0000750Delayed speech and language development
HP:0001256Intellectual disability, mild
HP:0001956Truncal obesity
Частый (30–79%)31
HP:0000219Thin upper lip vermilion
HP:0000316Hypertelorism
HP:0000322Short philtrum
HP:0000325Triangular face
HP:0000347Micrognathia
HP:0000403Recurrent otitis media
HP:0000431Wide nasal bridge
HP:0000470Short neck
HP:0000475Broad neck
HP:0000490Deeply set eye
HP:0000494Downslanted palpebral fissures
HP:0000508Ptosis
HP:0000545Myopia
HP:0000574Thick eyebrow
HP:0000664Synophrys
HP:0000692Tooth malposition
HP:0000708Atypical behavior
HP:0000739Anxiety
HP:0001250Seizure
HP:0001531Failure to thrive in infancy
HP:0002650Scoliosis
HP:0002967Cubitus valgus
HP:0003019Abnormality of the wrist
HP:0003028Abnormality of the ankles
HP:0008551Microtia
HP:0008607Progressive conductive hearing impairment
HP:0008935Generalized neonatal hypotonia
HP:0009824Upper limb undergrowth
HP:0010794Impaired visuospatial constructive cognition
HP:0011800Midface retrusion
HP:0011968Feeding difficulties
Периодический (5–29%)9
HP:0000362Otosclerosis
HP:0000712Emotional lability
HP:0000718Aggressive behavior
HP:0000738Hallucinations
HP:0000869Secondary amenorrhea
HP:0001657Prolonged QT interval
HP:0011304Broad thumb
HP:0011648Patent ductus arteriosus after birth at term
HP:0200053Hemihypotrophy of lower limb
Очень редкий (1–4%)3
HP:0000076Vesicoureteral reflux
HP:0001642Pulmonic stenosis
HP:0012683Pineal cyst
Исключён (0%)1
HP:0000824Decreased response to growth hormone stimulation test
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only |
| Cases/families | — | 19 | Worldwide | Case(s) |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)