Distal duplication 18q syndrome
ORPHA:1716Malformation syndromeAntenatal, Neonatal
Фенотипы (HPO)31
Очень частый (80–99%)17
HP:0000028Cryptorchidism
HP:0000268Dolichocephaly
HP:0000311Round face
HP:0000325Triangular face
HP:0000347Micrognathia
HP:0000426Prominent nasal bridge
HP:0000463Anteverted nares
HP:0000470Short neck
HP:0000474Thickened nuchal skin fold
HP:0000670Carious teeth
HP:0001263Global developmental delay
HP:0003196Short nose
HP:0004622Progressive intervertebral space narrowing
HP:0006482Abnormal dental morphology
HP:0010720Abnormal hair pattern
HP:0100543Cognitive impairment
HP:0000358Posteriorly rotated ears
Частый (30–79%)7
HP:0000218High palate
HP:0001166Arachnodactyly
HP:0007477Abnormal dermatoglyphics
HP:0007598Bilateral single transverse palmar creases
HP:0008736Hypoplasia of penis
HP:0030680Abnormal cardiovascular system morphology
HP:0100490Camptodactyly of finger
Периодический (5–29%)7
HP:0000055Abnormality of female external genitalia
HP:0000453Choanal atresia
HP:0000612Iris coloboma
HP:0000767Pectus excavatum
HP:0001176Large hands
HP:0004097Deviation of finger
HP:0004209Clinodactyly of the 5th finger
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Prevalence at birth | 1-9 / 1 000 000 | 0.4 | 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)