MedGen

Phalanges of the fingers becoming thinner toward the distal end. [from HPO]

An extremely rare type of spondyloepiphyseal dysplasia described in about 5 patients to date with clinical signs including short stature, peculiar facies with blepharophimosis, upward slanted eyes, abundant eyebrows and eyelashes, coarse voice, and short hands and feet. [from SNOMEDCT_US]