Pierpont syndrome
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 April 2024
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Pierpont syndrome?
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Advocacy Organizations
COMBINEDBrain Inc
COMBINEDBrain is a consortium for outcome measures and biomarkers for neurodevelopmental disorders. We are collaborating to cure rare, non-verbal brain disorders.
DDX3X Foundation
Our mission is to connect families, resources, and the medical community to advance research for a treatment or cure to DDX3X Syndrome. Our ultimate goal is to accelerate brain function in individuals affected by DDX3X Syndrome through advances in cell and gene therapy and pharmaceuticals.
Moonshots for Unicorns
Curing single-gene disorders
Project CASK
To fund research for treatment and/or a cure for CASK Gene Disorder
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
Clinical Trials
For a list of clinical trials in this disease area, please click here.