Craniofrontonasal dysplasia
ORPHA:1520Malformation syndromeX-linked dominantAntenatal, Neonatal
Ассоциированные гены1
Фенотипы (HPO)42
Очень частый (80–99%)8
HP:0000248Brachycephaly
HP:0000316Hypertelorism
HP:0000431Wide nasal bridge
HP:0000457Depressed nasal ridge
HP:0001363Craniosynostosis
HP:0002007Frontal bossing
HP:0004122Midline defect of the nose
HP:0008402Ridged fingernail
Частый (30–79%)28
HP:0001382Joint hypermobility
HP:0000164Abnormality of the dentition
HP:0000202Orofacial cleft
HP:0000218High palate
HP:0000252Microcephaly
HP:0000324Facial asymmetry
HP:0000349Widow's peak
HP:0000407Sensorineural hearing impairment
HP:0000474Thickened nuchal skin fold
HP:0000494Downslanted palpebral fissures
HP:0000889Abnormality of the clavicle
HP:0000912Sprengel anomaly
HP:0001156Brachydactyly
HP:0001161Hand polydactyly
HP:0001249Intellectual disability
HP:0001252Hypotonia
HP:0001357Plagiocephaly
HP:0001852Sandal gap
HP:0002162Low posterior hairline
HP:0002224Woolly hair
HP:0002650Scoliosis
HP:0004209Clinodactyly of the 5th finger
HP:0006101Finger syndactyly
HP:0006585Congenital pseudoarthrosis of the clavicle
HP:0010059Broad hallux phalanx
HP:0010719Abnormality of hair texture
HP:0100490Camptodactyly of finger
HP:0200021Down-sloping shoulders
Периодический (5–29%)6
HP:0000047Hypospadias
HP:0000049Shawl scrotum
HP:0000767Pectus excavatum
HP:0000776Congenital diaphragmatic hernia
HP:0002079Hypoplasia of the corpus callosum
HP:0006709Aplasia/Hypoplasia of the nipples
Эпидемиология1
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)