Monosomy 18q syndrome
ORPHA:1600Malformation syndromeAutosomal dominantAntenatal, Neonatal
Фенотипы (HPO)65
Частый (30–79%)29
HP:0000054Micropenis
HP:0000303Mandibular prognathia
HP:0000400Macrotia
HP:0000479Abnormal retinal morphology
HP:0000545Myopia
HP:0001018Abnormal palmar dermatoglyphics
HP:0001166Arachnodactyly
HP:0001182Tapered finger
HP:0001249Intellectual disability
HP:0001256Intellectual disability, mild
HP:0001263Global developmental delay
HP:0001319Neonatal hypotonia
HP:0001510Growth delay
HP:0001643Patent ductus arteriosus
HP:0001762Talipes equinovarus
HP:0001763Pes planus
HP:0001999Abnormal facial shape
HP:0002370Poor coordination
HP:0002714Downturned corners of mouth
HP:0002750Delayed skeletal maturation
HP:0002751Kyphoscoliosis
HP:0004322Short stature
HP:0005148Pulmonary valve defects
HP:0005280Depressed nasal bridge
HP:0007204Diffuse white matter abnormalities
HP:0008240Secondary growth hormone deficiency
HP:0008513Bilateral conductive hearing impairment
HP:0008689Bilateral cryptorchidism
HP:0012447Abnormal myelination
Периодический (5–29%)34
HP:0000154Wide mouth
HP:0000194Open mouth
HP:0000218High palate
HP:0000238Hydrocephalus
HP:0000252Microcephaly
HP:0000286Epicanthus
HP:0000294Low anterior hairline
HP:0000322Short philtrum
HP:0000407Sensorineural hearing impairment
HP:0000414Bulbous nose
HP:0000448Prominent nose
HP:0000452Choanal stenosis
HP:0000486Strabismus
HP:0000494Downslanted palpebral fissures
HP:0000767Pectus excavatum
HP:0000821Hypothyroidism
HP:0001250Seizure
HP:0001266Choreoathetosis
HP:0001321Cerebellar hypoplasia
HP:0001382Joint hypermobility
HP:0001508Failure to thrive
HP:0001533Slender build
HP:0001635Congestive heart failure
HP:0001650Aortic valve stenosis
HP:0001653Mitral regurgitation
HP:0001684Secundum atrial septal defect
HP:0002720Decreased circulating IgA level
HP:0004422Biparietal narrowing
HP:0004942Aortic aneurysm
HP:0005134Absence of the pulmonary valve
HP:0005164Dysplastic pulmonary valve
HP:0011596Left aortic arch with right descending aorta and right ductus arteriosus
HP:0012382Left-to-right shunt
HP:0012471Thick vermilion border
Очень редкий (1–4%)2
HP:0003413Atlantoaxial abnormality
HP:0009592Astrocytoma
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Prevalence at birth | 1-9 / 100 000 | 2.5 | Worldwide | Value and class |
| Point prevalence | Unknown | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)