Other Names for this Disease
- Brachycephaly - deafness - cataract - intellectual disability
- Brachycephaly, deafness, cataract and mental retardation
Tests & Diagnosis
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In 2009, Corona-Rivera et al reviewed the clinical features of previously published patients. They identified key signs for diagnosis as: non-synostotic (without synostosis) brachycephaly (short or broad head) or plagiocephaly (flattening of the head); structural brain anomalies; abnormal EEG; intellectual disability; deafness; ocular (eye) abnormalities including cataracts or glaucoma; distinctive facial features involving high/wide forehead, shallow orbits, flat/round face, low-set posteriorly rotated ears, and microstomia (small mouth); and body asymmetry.
Last updated: 4/27/2011
- Marla J. F. O'Neill et al. BRACHYCEPHALY, DEAFNESS, CATARACT, MICROSTOMIA, AND MENTAL RETARDATION. OMIM. October 30, 2009; http://www.ncbi.nlm.nih.gov/omim/601353. Accessed 4/27/2011.