Individuals with DESSH<unk>  present in infancy with nonspecific feeding and gastrointestinal problems, such as constipation, feeding difficulties and gastroesophageal reflux as well as hypotonia. They can also exhibit some eye abnormalities, such as strabismus and refractive errors (nearsightedness), and astigmatism and occasionally recurrent respiratory infections. When children get older, they start showing developmental delay and neurobehavioral difficulties. Gross motor delay is very common; for instance independent walking usually starts around 20-30 months of age. Language acquisition is delayed in almost all individuals with DESSH<unk> . Many patients with DESSH<unk>  have cognitive disabilities ranging from mild to moderate. Behavioral problems include ADHD, anxiety, aggressive outbursts and some autistic features. There are cases of autism in this population. Facial features of patients with DESSH<unk>  include a broad forehead, bushy eyebrows, depressed nasal bridge and a bulbous nasal tip. Congenital anomalies were also occasionally reported and include eye, kidney, pelvic and limb anomalies. Some patients in this grouping suffer from seizures.
DeSanto-Shinawi syndrome
Baggio–Yoshinari syndrome
Pelger–Huët anomaly
Urbach–Wiethe disease
Treacher Collins syndrome
Klüver–Bucy syndrome
GRACILE syndrome
Koolen–De Vries syndrome