The Ring 14 syndrome is rare and can be misdiagnosed.
The 2 ends of chromosome 14 fuse into a ring, often in conjunction with a microdeletion.
(1) intrauterine growth retardation (IUGR)
(2) short stature
(3) facial features (see below)
(6) ocular abnormalities (abnormal retinal pigmentation, strabismus, glaucoma. abnormal macula)
(7) drug-resistant epilepsy
(8) aggressive or hyperactive behavior
(9) susceptibility to infections
(10) mental retardation
Classic facial features are seen in patients with a deleted ring together with deletion at 14q32 with size > 0.65Mb:
(1) long face
(2) full cheeks
(3) high forehead
(4) hypoplastic supraorbital ridges
(5) horizontal eyebrows
(6) deep set and down-slanting eyes
(7) short palpebral fissures
(8) possible hypertelorism
(9) short nose with bulbous tip
(10) long philtrum
(11) small mouth with downturned corners
To read more or access our algorithms and calculators, please log in or register.