Schuurs-Hoeijmakers syndrome

Schuurs-Hoeijmakers syndrome is a rare genetic condition. It is characterized by a range of developmental challenges, including mild to moderate intellectual disability and developmental delays, with speech and language development often being more affected. People with this condition also have unique facial features. These can include full, arched eyebrows, eyes that appear widely spaced (hypertelorism), down-slanting eye openings, long eyelashes, drooping eyelids (ptosis), low-set and simple ears, a bulbous nasal tip, a flat area above the upper lip (philtrum), a wide mouth with downturned corners, a thin upper lip, and gaps between the teeth (diastema). Additional signs may include low muscle tone in infancy, seizures, undescended testicles in males, and other congenital abnormalities that affect the heart, brain, or eyes.

Common signs and symptoms of Schuurs-Hoeijmakers syndrome include intellectual disability and developmental delays, with notable difficulties in speech and language development. People with this condition can also have distinct facial features such as full, arched eyebrows, widely spaced eyes, down-slanting eye openings, long eyelashes, drooping eyelids, low-set ears, a bulbous nasal tip, a flat philtrum, and a wide mouth with downturned corners. Other observed symptoms may include low muscle tone in infancy, seizures, undescended testicles in males, and sometimes congenital abnormalities involving the heart, brain, or eyes.

This condition is caused by changes in a gene known as PACS1. It is inherited in an autosomal dominant manner, which means that a change in just one copy of the gene can be enough to cause the condition. This genetic change leads to the range of symptoms seen in Schuurs-Hoeijmakers syndrome.

Information about treatment is currently limited for this condition.

Information about prognosis is currently limited for this condition.

Information about current research and future directions is currently limited for this condition.