Monosomy 18p syndrome
ORPHA:1598DiseaseAutosomal dominantAntenatal, Infancy, Neonatal
Фенотипы (HPO)38
Очень частый (80–99%)9
HP:0000322Short philtrum
HP:0000411Protruding ear
HP:0000668Hypodontia
HP:0000750Delayed speech and language development
HP:0001156Brachydactyly
HP:0001249Intellectual disability
HP:0001263Global developmental delay
HP:0004322Short stature
HP:0009738Abnormality of the antihelix
Частый (30–79%)20
HP:0000175Cleft palate
HP:0000248Brachycephaly
HP:0000252Microcephaly
HP:0000286Epicanthus
HP:0000347Micrognathia
HP:0000400Macrotia
HP:0000431Wide nasal bridge
HP:0000465Webbed neck
HP:0000470Short neck
HP:0000508Ptosis
HP:0000670Carious teeth
HP:0000692Tooth malposition
HP:0000767Pectus excavatum
HP:0000822Hypertension
HP:0001252Hypotonia
HP:0002162Low posterior hairline
HP:0002714Downturned corners of mouth
HP:0002751Kyphoscoliosis
HP:0006610Wide intermamillary distance
HP:0100625Enlarged thorax
Периодический (5–29%)9
HP:0000568Microphthalmia
HP:0000708Atypical behavior
HP:0000821Hypothyroidism
HP:0001004Lymphedema
HP:0001360Holoprosencephaly
HP:0001596Alopecia
HP:0002960Autoimmunity
HP:0007325Generalized dystonia
HP:0030680Abnormal cardiovascular system morphology
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | 1-9 / 100 000 | — | Europe | Class only |
| Prevalence at birth | 1-9 / 100 000 | 2 | Europe | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)