Cleidocranial dysplasia
ORPHA:1452Malformation syndromeAutosomal dominant, Not applicableAntenatal, Neonatal
Ассоциированные гены1
Фенотипы (HPO)55
Очень частый (80–99%)19
HP:0000164Abnormality of the dentition
HP:0000239Large fontanelles
HP:0000316Hypertelorism
HP:0000340Sloping forehead
HP:0000347Micrognathia
HP:0000670Carious teeth
HP:0000682Abnormality of dental enamel
HP:0000774Narrow chest
HP:0000894Short clavicles
HP:0002007Frontal bossing
HP:0002205Recurrent respiratory infections
HP:0002645Wormian bones
HP:0002652Skeletal dysplasia
HP:0002705High, narrow palate
HP:0004322Short stature
HP:0008821Hypoplastic inferior ilia
HP:0010669Hypoplasia of the zygomatic bone
HP:0011069Supernumerary tooth
HP:0200021Down-sloping shoulders
Частый (30–79%)18
HP:0000389Chronic otitis media
HP:0000684Delayed eruption of teeth
HP:0000772Abnormal rib morphology
HP:0000939Osteoporosis
HP:0001156Brachydactyly
HP:0000246Sinusitis
HP:0000303Mandibular prognathia
HP:0000364Hearing abnormality
HP:0000365Hearing impairment
HP:0003298Spina bifida occulta
HP:0004331Decreased skull ossification
HP:0005107Abnormal sacrum morphology
HP:0005280Depressed nasal bridge
HP:0005916Abnormal metacarpal morphology
HP:0010751Chin dimple
HP:0010807Open bite
HP:0011219Short face
HP:0011800Midface retrusion
Периодический (5–29%)18
HP:0000162Glossoptosis
HP:0000175Cleft palate
HP:0000248Brachycephaly
HP:0000256Macrocephaly
HP:0000337Broad forehead
HP:0000882Hypoplastic scapulae
HP:0001172Abnormal thumb morphology
HP:0001182Tapered finger
HP:0001810Dystrophic toenail
HP:0002644Abnormality of pelvic girdle bone morphology
HP:0002650Scoliosis
HP:0002757Recurrent fractures
HP:0002812Coxa vara
HP:0002857Genu valgum
HP:0004209Clinodactyly of the 5th finger
HP:0005930Abnormality of epiphysis morphology
HP:0008391Dystrophic fingernails
HP:0010535Sleep apnea
Эпидемиология3
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | 1-9 / 1 000 000 | 0.1 | Worldwide | Value and class |
| Prevalence at birth | 1-9 / 1 000 000 | 0.4 | Europe | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 1.2 | United States | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)