Monosomy 5p syndrome
ORPHA:281Malformation syndromeNot applicable, UnknownAntenatal
Ассоциированные гены2
Фенотипы (HPO)27
Очень частый (80–99%)12
HP:0000252Microcephaly
HP:0000286Epicanthus
HP:0000308Microretrognathia
HP:0000311Round face
HP:0000431Wide nasal bridge
HP:0001252Hypotonia
HP:0001608Abnormality of the voice
HP:0001620Abnormally high-pitched voice
HP:0010864Intellectual disability, severe
HP:0011344Severe global developmental delay
HP:0200046Cat cry
HP:0000358Posteriorly rotated ears
Частый (30–79%)8
HP:0000218High palate
HP:0000316Hypertelorism
HP:0000470Short neck
HP:0000494Downslanted palpebral fissures
HP:0001511Intrauterine growth retardation
HP:0002650Scoliosis
HP:0004322Short stature
HP:0200055Small hand
Периодический (5–29%)7
HP:0000023Inguinal hernia
HP:0000384Preauricular skin tag
HP:0002757Recurrent fractures
HP:0004348Abnormality of bone mineral density
HP:0006101Finger syndactyly
HP:0030680Abnormal cardiovascular system morphology
HP:0001382Joint hypermobility
Эпидемиология3
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Prevalence at birth | 1-9 / 100 000 | 7 | Japan | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 2.22 | Denmark | 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)