Pierpont syndrome is a multiple congenital anomaly syndrome associated with learning disability. Key features include distinctive facial characteristics, especially when smiling, plantar fat pads, and other limb anomalies (summary by Burkitt Wright et al., 2011).
Pierpont et al. (1998) suggested that 2 unrelated boys suffered from a previously undescribed disorder characterized by global developmental delay and a phenotype of microcephaly, midface hypoplasia, enlarged fleshy ears, depressed nasal bridge, anteverted nostrils, central palatal ridge, ... Pierpont et al. (1998) suggested that 2 unrelated boys suffered from a previously undescribed disorder characterized by global developmental delay and a phenotype of microcephaly, midface hypoplasia, enlarged fleshy ears, depressed nasal bridge, anteverted nostrils, central palatal ridge, and high forehead. Bilateral congenital fat pads were present anteromedial to the heels. Fetal finger and toe pads were also present and palmar and plantar grooves were deeper than normal with 'pillowing' of the areas between the grooves. Congenital fatty heel pads, which have been described as an isolated clinical finding (Livingstone and Burd, 1995), are rare. Oudesluijs et al. (2005) reported a 2.5-year-old boy with axial hypotonia in the first few months of life, prolonged feeding problems, moderate developmental delay, no speech development, deep palmar and plantar grooves, and fat pads at the anteromedial aspect of the heels. Examination at 7 months of age revealed a distinct facial phenotype, with high forehead, high anterior hairline, mild midface hypoplasia, markedly narrow and upwardly slanting palpebral fissures, broad nasal ridge and tip, broad philtrum, bowed upper lip with 'pouting' and hypotonic lower lip, full cheeks, and flat occiput. His neck was short, internipple distance was large, and areolas were small. His penis was small with slightly underdeveloped scrotum. There was excessive skin over the hands and feet, causing them to have a puffy appearance, and on the palms and soles there was pillowing of the areas between the grooves. At 2.5 years of age, the patient had no speech development and could not crawl; he could roll over and sit independently, however, and he moved around by shuffling on his back. Facial features were essentially unchanged, although there was now evidence of widely spaced teeth, with a broad right upper incisor and an irregular edge to all incisors. Oudesluijs et al. (2005) stated that this patient had a phenotype 'almost identical' to that of the 2 boys reported by Pierpont et al. (1998), and proposed the designation 'Pierpont syndrome' for the condition. Burkitt Wright et al. (2011) provided follow-up on the 3 previously described patients with Pierpont syndrome and reported 7 additional patients with a similar phenotype, including 1 girl and a pair of monozygotic twin boys. The new patients were ascertained by the presence of fat pads anteromedial to their heels, fetal digital pads, learning disability, and characteristic facial dysmorphism. Burkitt Wright et al. (2011) noted that the narrow palpebral fissures took on a distinctive crescent moon shape when smiling due to the fullness of the cheeks in these patients.