2q23.1 microdeletion syndrome

The newly described syndrome includes severe intellectual deficit with pronounced speech delay, behavioural abnormalities including hyperactivity and inappropriate laughter, short stature and seizures. To date, fifteen patients have been reported. Dysmorphic features include microcephaly, wide and open mouth, a tented upper lip, and prominent incisors. The majority of cases present with stereotypic repetitive behaviour, disturbed sleep pattern and a broad-based gait. Skeletal abnormalities include generalised brachydactyly with small hands and feet. The size of the deletions is variable the critical region includes a single gene, MBD5.

SNOMEDCT_US