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

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