Pierpont syndrome

Pierpont syndrome is a rare subcutaneous tissue disorder. It presents with low muscle tone (axial hypotonia) after birth, feeding difficulties that last for a long time, and a global developmental delay that can be moderate to severe. Seizures, especially absence seizures, have also been reported in people with this condition. In addition to these challenges, people with Pierpont syndrome show distinct physical features. They may have unusual fat pads on the feet and deep grooves on the palms and soles. Their facial features commonly include a broad face with a high forehead, a high hairline, narrow eye openings that form a crescent moon shape when smiling, and a broad nasal bridge with anteverted nostrils. Other features such as a smooth, long philtrum, thin upper lip, and closely spaced teeth add to the distinct appearance. Over time, some of the fat pads may become less noticeable.

People with Pierpont syndrome may experience a range of symptoms. These include axial hypotonia (low muscle tone) seen after birth, prolonged difficulties with feeding, and developmental delays that affect many areas of growth. Seizures, particularly absence seizures, have been noted. Distinctive physical features such as fetal digital pads, prominent plantar fat pads near the heels, deep grooves on the palms and soles, and unique facial characteristics (such as a broad face, high forehead, crescent-shaped palpebral fissures, and a broad nasal bridge) are also common.

Research suggests that genetics play a role in Pierpont syndrome. The condition has been associated with changes in the TBL1XR1 gene. This genetic link helps explain how the syndrome develops, although ongoing studies continue to explore the full genetic and environmental factors involved.

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.