Craniofacial dysostosis-diaphyseal hyperplasia syndrome
ORPHA:1798Malformation syndromeAutosomal dominantNeonatal
Фенотипы (HPO)36
Очень частый (80–99%)25
HP:0000158Macroglossia
HP:0000164Abnormality of the dentition
HP:0000174Abnormal palate morphology
HP:0000252Microcephaly
HP:0000316Hypertelorism
HP:0000327Hypoplasia of the maxilla
HP:0000446Narrow nasal bridge
HP:0000520Proptosis
HP:0000682Abnormality of dental enamel
HP:0000767Pectus excavatum
HP:0000929Abnormal skull morphology
HP:0001156Brachydactyly
HP:0002514Cerebral calcification
HP:0002650Scoliosis
HP:0002652Skeletal dysplasia
HP:0002983Micromelia
HP:0004322Short stature
HP:0004474Persistent open anterior fontanelle
HP:0005105Abnormal nasal morphology
HP:0005665Massively thickened long bone cortices
HP:0006487Bowing of the long bones
HP:0010669Hypoplasia of the zygomatic bone
HP:0011001Increased bone mineral density
HP:0011800Midface retrusion
HP:0012368Flat face
Частый (30–79%)5
HP:0000248Brachycephaly
HP:0000670Carious teeth
HP:0002808Kyphosis
HP:0003307Hyperlordosis
HP:0009804Tooth agenesis
Периодический (5–29%)6
HP:0000444Convex nasal ridge
HP:0000470Short neck
HP:0000944Abnormal metaphysis morphology
HP:0002645Wormian bones
HP:0005930Abnormality of epiphysis morphology
HP:0100777Exostoses
Эпидемиология1
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Europe | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)