Cataracts, Congenital, With Short Stature and Minor Skeletal Anomalies

Clinical Characteristics
Ocular Features: 

Early-onset cataracts are the main ocular feature of this syndrome.  A nonconsanguineous Korean family with 4 affected individuals has been reported.  Cataracts were diagnosed at various ages, including one adult, one juvenile, and one infant.  All had horizontal nystagmus and reduced vision even after surgical removal of the lenses.  

Systemic Features: 

Macrocephaly and short stature are consistent features.  Brachydactyly of the fingers is usually present.  The feet are described as "flat" and contain accessory navicular bones.


A 3 generation Korean family with 4 affected members has been reported.  Three living members and a deceased grandfather had cataracts in an autosomal dominant pattern.  A mutation in the BRD4 gene (19p12.12) mutation segregated with the cataract phenotype.

Treatment Options: 

Surgical removal of the cataractous lenses may be helpful in selected individuals but amblyopia is likely present as postoperative vision may remain below normal.

Article Title: 


Jin HS, Kim J, Kwak W, Jeong H, Lim GB, Lee CG. Identification of a Novel Mutation in BRD4 that Causes Autosomal Dominant Syndromic Congenital Cataracts Associated with Other Neuro-Skeletal Anomalies. PLoS One. 2017 Jan 11;12(1):e0169226. doi: 10.1371/journal.pone.0169226.

PubMedID: 28076398