Acrodysostosis
ORPHA:950Malformation syndromeAutosomal dominantAntenatal, Neonatal
Ассоциированные гены2
Фенотипы (HPO)53
Очень частый (80–99%)19
HP:0000194Open mouth
HP:0000327Hypoplasia of the maxilla
HP:0000431Wide nasal bridge
HP:0000457Depressed nasal ridge
HP:0001156Brachydactyly
HP:0001249Intellectual disability
HP:0001597Abnormality of the nail
HP:0001831Short toe
HP:0003196Short nose
HP:0003312Abnormal form of the vertebral bodies
HP:0004322Short stature
HP:0005280Depressed nasal bridge
HP:0005616Accelerated skeletal maturation
HP:0005916Abnormal metacarpal morphology
HP:0010049Short metacarpal
HP:0010579Cone-shaped epiphysis
HP:0010655Epiphyseal stippling
HP:0010743Short metatarsal
HP:0011800Midface retrusion
Частый (30–79%)27
HP:0000028Cryptorchidism
HP:0000055Abnormality of female external genitalia
HP:0000248Brachycephaly
HP:0000303Mandibular prognathia
HP:0000316Hypertelorism
HP:0000365Hearing impairment
HP:0000463Anteverted nares
HP:0000506Telecanthus
HP:0000684Delayed eruption of teeth
HP:0000940Abnormal diaphysis morphology
HP:0000944Abnormal metaphysis morphology
HP:0001373Joint dislocation
HP:0002007Frontal bossing
HP:0002673Coxa valga
HP:0002818Abnormal morphology of the radius
HP:0002823Abnormality of femur morphology
HP:0002970Genu varum
HP:0002983Micromelia
HP:0002984Hypoplasia of the radius
HP:0003022Hypoplasia of the ulna
HP:0003416Spinal canal stenosis
HP:0006059Cone-shaped metacarpal epiphyses
HP:0006487Bowing of the long bones
HP:0009830Peripheral neuropathy
HP:0010978Abnormality of immune system physiology
HP:0011220Prominent forehead
HP:0040071Abnormal morphology of ulna
Периодический (5–29%)7
HP:0000135Hypogonadism
HP:0000286Epicanthus
HP:0000858Irregular menstruation
HP:0000995Melanocytic nevus
HP:0002650Scoliosis
HP:0010807Open bite
HP:0012368Flat face
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only |
| Cases/families | — | 80 | Worldwide | Case(s) |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)