Clinical Characteristics

Primary clinical features include neonatal hypotonia and feeding difficulties secondary to oral hypotonia and/or swallowing difficulties.

Patients typically present with delays in language and motor development and – in the majority – variable degrees of intellectual disability. A small subset of the affected individuals reported to date present with autism spectrum disorder. However, also other behavioural abnormalities are commonly observed  such as anxiety, concentration deficits and/or hyperactivity as well as sleep disorders.

Typical facial features consist of a square face with broad forehead, synophrys, deep set eyes with hypertelorism, flat nasal bridge with bulbous nasal tip, abnormal shape or position of ears, broad mouth with a broad chin. Hand or foot abnormalities including brachydactyly of fingers, fetal finger pads and/or pedes plano-valgi may be part of the clinical spectrum.

Several affected individuals present with visual problems (refractive problems, strabismus and otherwise unexplained poor vision/cortical visual impairment) as well as variable respiratory complaints (abnormal breathing pattern, asthma or recurrent infections). Constipation appears to be a relatively common occurrence among the patients.

A few individuals have been reported to have seizures or abnormal hearing.

Congenital anomalies are not typically seen in association with DeSanto-Shinawi syndrome. Few individuals had abnormal brain CT/MRI findings although there is no abnormality specific to the disorder.