Clinical features
Individuals with SHMT2 brain and heart developmental syndrome can have a characteristic and identifiable clinical phenotype that is consisted with: intellectual disability, motor dysfunction in the form of spastic paraparesis, ataxia, and/or peripheral neuropathy. Patients present also congenital microcephaly and dysmorphic features (long palpebral fissures, eversion of lateral third of lower eyelids, arched eyebrows, long eyelashes, thin upper lip, long philtrum, short fifth finger, fleshy pads at the tips of the fingers, mild 2-3 toe syndactyly and low-set thumbs).
Most of the reported cases had hypertrophic cardiomyopathy or atrial-septal defects, which tend to progress over time.
Prevalence
SHMT2 brain and heart developmental syndrome is extremely rare and to date only 5 patients have been reported in the literature.
Inheritance
SHMT2 is inherited in an autosomal recessive manner.
SHMT2