Aylsworth listed diagnostic criteria for the Townes-Brocks Syndrome (TBS).


The diagnosis of TBS should be considered when there are 2 or more of the following:

(1) anorectal malformation (stenosis, anteriorly displaced, imperforate)

(2) hand malformation (preaxial polydactyly, bifid thumb, triphalangeal thumb)

(3) an external ear malformation (microtia, preauricular pit, preauricular tag, "satyr" ear) AND sensorineural hearing loss

(4) an affected relative with the same syndrome



• Inheritance shows an autosomal dominant pattern.

• HARE (hand, anus, relative, ear) would be a suitable acronym.


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