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.
Clinical features:
(1) intrauterine growth retardation (IUGR)
(2) short stature
(3) facial features (see below)
(4) microcephaly
(5) scoliois
(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
