14q22q23 microdeletion syndrome
ORPHA:264200Malformation syndromeNot applicableAntenatal, Infancy, Neonatal
Фенотипы (HPO)40
Очень частый (80–99%)19
HP:0000028Cryptorchidism
HP:0000046Small scrotum
HP:0000286Epicanthus
HP:0000316Hypertelorism
HP:0000348High forehead
HP:0000358Posteriorly rotated ears
HP:0000378Cupped ear
HP:0000384Preauricular skin tag
HP:0000413Atresia of the external auditory canal
HP:0000494Downslanted palpebral fissures
HP:0000508Ptosis
HP:0000520Proptosis
HP:0000528Anophthalmia
HP:0000864Abnormality of the hypothalamus-pituitary axis
HP:0001252Hypotonia
HP:0001263Global developmental delay
HP:0002714Downturned corners of mouth
HP:0004322Short stature
HP:0012521Optic nerve aplasia
Частый (30–79%)8
HP:0000248Brachycephaly
HP:0000272Malar flattening
HP:0000347Micrognathia
HP:0000430Underdeveloped nasal alae
HP:0000873Diabetes insipidus
HP:0001274Agenesis of corpus callosum
HP:0002119Ventriculomegaly
HP:0010627Anterior pituitary hypoplasia
Периодический (5–29%)13
HP:0001773Short foot
HP:0002750Delayed skeletal maturation
HP:0004209Clinodactyly of the 5th finger
HP:0004279Short palm
HP:0006101Finger syndactyly
HP:0007598Bilateral single transverse palmar creases
HP:0010044Short 4th metacarpal
HP:0010047Short 5th metacarpal
HP:0000089Renal hypoplasia
HP:0000365Hearing impairment
HP:0000835Adrenal hypoplasia
HP:0001558Decreased fetal movement
HP:0001770Toe syndactyly
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 5 | 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)