Pierpont syndrome

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Synonyms: Plantar lipomatosis-facial dysmorphism-developmental delay syndrome | Plantar lipomatosis-unusual facies-developmental delay syndrome

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.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version June 2024

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Pierpont syndrome?

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