21q22.11q22.12 microdeletion syndrome
ORPHA:261323Malformation syndromeNot applicableInfancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)59
Очень частый (80–99%)1
HP:0001873Thrombocytopenia
Частый (30–79%)18
HP:0000252Microcephaly
HP:0000280Coarse facial features
HP:0000414Bulbous nose
HP:0000708Atypical behavior
HP:0001156Brachydactyly
HP:0001249Intellectual disability
HP:0001250Seizure
HP:0001344Absent speech
HP:0001531Failure to thrive in infancy
HP:0001792Small nail
HP:0001999Abnormal facial shape
HP:0004322Short stature
HP:0006979Sleep-wake cycle disturbance
HP:0008872Feeding difficulties in infancy
HP:0008897Postnatal growth retardation
HP:0011344Severe global developmental delay
HP:0012385Camptodactyly
HP:0030084Clinodactyly
Периодический (5–29%)40
HP:0000179Thick lower lip vermilion
HP:0000219Thin upper lip vermilion
HP:0000311Round face
HP:0000316Hypertelorism
HP:0000319Smooth philtrum
HP:0000369Low-set ears
HP:0000403Recurrent otitis media
HP:0000463Anteverted nares
HP:0000486Strabismus
HP:0000494Downslanted palpebral fissures
HP:0000678Dental crowding
HP:0000752Hyperactivity
HP:0000958Dry skin
HP:0000960Sacral dimple
HP:0001106Periorbital hyperpigmentation
HP:0001274Agenesis of corpus callosum
HP:0001631Atrial septal defect
HP:0001903Anemia
HP:0002307Drooling
HP:0002465Poor speech
HP:0002557Hypoplastic nipples
HP:0002714Downturned corners of mouth
HP:0002750Delayed skeletal maturation
HP:0003086Acromesomelia
HP:0003763Bruxism
HP:0007874Almond-shaped palpebral fissure
HP:0008404Nail dystrophy
HP:0008551Microtia
HP:0008947Floppy infant
HP:0009226Short proximal phalanx of the 5th finger
HP:0009597Short proximal phalanx of the 2nd finger
HP:0010230Cone-shaped epiphyses of the phalanges of the hand
HP:0011800Midface retrusion
HP:0012172Stereotypical body rocking
HP:0012471Thick vermilion border
HP:0012745Short palpebral fissure
HP:0030215Inappropriate crying
HP:0030799Scaphocephaly
HP:0100703Tongue thrusting
HP:0100716Self-injurious behavior
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 14 | 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)