microphthalmia—syndromic—2

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microphthalmia—syndromic—22016-12-03T06:48:48+00:00

microphthalmia—syndromic—2

EMBRYOLOGY, OPHTHALMOLOGY

Definition An über rare multiple congenital anomaly syndrome (OMIM:300166) characterised by:

• Eye anomalies (congenital cataract, microphthalmia, secondary glaucoma)

• Facial abnormalities (long narrow face, high nasal bridge, pointed nose with cartilage separated at the tip, cleft palate, submucous cleft palate)

• Cardiac anomalies (atrial septal defect, ventricular septal defect, floppy mitral valve), and

• Dental abnormalities (canine radiculomegaly, delayed dentition, oligodontia, persistent primary teeth, variable root length).

Microphthalmia is a disorder of eye formation, ranging from small size of a single eye to complete bilateral absence of ocular tissues (anophthalmia). In many cases, microphthalmia/anophthalmia occurs in association with syndromes that include non-ocular abnormalities.

Molecular pathology Defects of BCOR, which encodes a POZ/zinc finger transcription repressor required for germinal centre formation and may influence apoptosis, cause microphthalmia—syndromic 2. 

Synonyms ANOP2, MAA2, microphthalmia—cataracts—radiculomegaly—and septal heart defects, oculofaciocardiodental syndrome, OFCD syndrome 

References http://www.uniprot.org/uniprot/Q6W2J9

http://www.omim.org/entry/300166

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