Fraser syndrome

A rare clinical entity including as main characteristics cryptophthalmos and syndactyly.

Brachydactyly

Digits that appear disproportionately short compared to the hand/foot. The word brachydactyly is used here to describe a series distinct patterns of shortened digits (brachydactyly types A-E). This is the sense used here.


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PMID (PMCID)
27624506
 OTHER
Variable presentation of Fraser syndrome in two fetuses and a novel mutation in FRAS1.
Nayak SS, Salian S, Shukla A, Mathew M, Girisha KM.
Congenit Anom (Kyoto). 2017;57(3):83-85.
We note severe brachydactyly is a manifestation of Fraser syndrome and found a novel homozygous splice site variation c.3293-2A>T in FRAS1.