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Pierpont syndrome

Disease definition

A rare multiple congenital anomalies/dysmorphic syndrome characterized by axial hypotonia after birth, prolonged feeding difficulties, moderate to severe global developmental delay, seizures (in particular absence seizures), fetal digital pads, distinctive plantar fat pads anteromedial to the heels, and deep palmar and plantar grooves. Over time, fat pads may become less prominent and disappear. Distinct craniofacial dysmorphic features include a broad face with high forehead, high anterior hairline, narrow palpebral fissures that take on a crescent moon shape when smiling, broad nasal bridge and tip with anteverted nostrils, mild midfacial hypoplasia, long, smooth philtrum, thin upper lip vermillion, small, widely spaced teeth, and flat occiput/microcephaly/brachycephaly.


Classification level: Disorder
  • Synonym(s):
    • Plantar lipomatosis-facial dysmorphism-developmental delay syndrome
    • Plantar lipomatosis-unusual facies-developmental delay syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: -
  • Age of onset: Neonatal, Infancy
  • ICD-10: Q87.8
  • OMIM: 602342
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -
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