Pallister-Killian syndrome
ORPHA:884Malformation syndromeNot applicable, UnknownAntenatal, Neonatal
Фенотипы (HPO)29
Очень частый (80–99%)18
HP:0000215Thick upper lip vermilion
HP:0000219Thin upper lip vermilion
HP:0000232Everted lower lip vermilion
HP:0000343Long philtrum
HP:0000470Short neck
HP:0000508Ptosis
HP:0000684Delayed eruption of teeth
HP:0000966Hypohidrosis
HP:0001252Hypotonia
HP:0001315Reduced tendon reflexes
HP:0002714Downturned corners of mouth
HP:0002750Delayed skeletal maturation
HP:0004322Short stature
HP:0004326Cachexia
HP:0008070Sparse hair
HP:0010864Intellectual disability, severe
HP:0045075Sparse eyebrow
HP:0001382Joint hypermobility
Частый (30–79%)8
HP:0000280Coarse facial features
HP:0000316Hypertelorism
HP:0000463Anteverted nares
HP:0000506Telecanthus
HP:0000582Upslanted palpebral fissure
HP:0002007Frontal bossing
HP:0003196Short nose
HP:0011220Prominent forehead
Периодический (5–29%)3
HP:0000486Strabismus
HP:0002023Anal atresia
HP:0100736Abnormality of the soft palate
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Prevalence at birth | 1-9 / 100 000 | 4 | Europe | 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)