Fraser-Syndrom
Fraser
syndrome • Fraser syndrome - Ganzer Fall bei Radiopaedia
Fraser
syndrome • Fraser syndrome - Ganzer Fall bei Radiopaedia
Fraser syndrome is an extremely rare congenital syndromic anomaly.
Epidemiology
The estimated incidence is at around 0.04:10,000 live-born infants and 1:10,000 stillbirths.
Clinical spectrum
The syndromic spectrum can comprise of:
- cryptophthalmos
- syndactyly: often cutaneous
- tracheal atresia / laryngeal atresia
- genitourinary anomalies
- micropenis
- cryptorchidism
- clitoromegaly
- craniofacial dysmorphism / orofacial clefting
- intellectual disability
- musculoskeletal anomalies
Pathology
It carries an autosomal recessive inheritance with an abnormal gene locus at 4p21.
History and etymology
It is named after George R Fraser, a British human geneticist who first described the features of the syndrome in 1962.
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Assoziationen und Differentialdiagnosen zu Fraser-Syndrom:
