Fraser syndrome
Synopsis

FS is characterized by unilateral or bilateral cryptophthalmos (skin covering the eyes), with or without underlying abnormalities of the eye; syndactyly (fused digits of the hands and feet); renal agenesis; and genital anomalies such as cryptorchidism and ambiguous genitalia. Less common abnormalities include heart malformations, anomalies of the larynx and respiratory tract, and cleft lip / palate. The condition can be fatal in the antenatal and neonatal periods, but individuals with lower severity of symptoms can live into childhood or adulthood with a normal life expectancy.
The prognosis depends on the severity of the condition. Death within the first year of life is common in affected newborns with severe anomalies.
Codes
Q87.0 – Congenital malformation syndromes predominantly affecting facial appearance
SNOMEDCT:
204102004 – Cryptophthalmos syndrome
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Last Updated:11/09/2023