Fraser syndrome is an extremely rare congenital syndromic anomaly.
The estimated incidence is at around 0.04:10,000 live-born infants and 1:10,000 stillbirths.
The syndromic spectrum can comprise of:
- syndactyly: often cutaneous
- tracheal atresia / laryngeal atresia
- genitourinary anomalies
- craniofacial dysmorphism / orofacial clefting 4
- intellectual disability 4
- musculoskeletal anomalies
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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