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EXPERIMENTAL FACTOR ONTOLOGY - ANNOTATIONS

Term:Pierpont syndrome
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Accession:EFO:MONDO:0011213 term browser browse the term
Definition:Pierpont syndrome is a rare subcutaneous tissue disorder 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, deep palmar and plantar grooves. Additionally, distinct craniofacial dysmorphic features, notably 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, are also chararteristic. Over time, fat pads may become less prominent and disappear.
Synonyms:exact_synonym: plantar lipomatosis-facial dysmorphism-developmental delay syndrome;   plantar lipomatosis-unusual facies-developmental delay syndrome
 related_synonym: PRPTS;   plantar lipomatosis, unusual facies, and developmental delay
 alt_id: MONDO:0011213
 xref: DOID:0081362;   GARD:17885;   MEDGEN:356049;   MESH:C566559;   MIM:602342;   ORDO:487825;   UMLS:C1865644

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          nervous system disease 0
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              Pierpont syndrome 0
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  experimental factor 0
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                mental or behavioural disorder 0
                  developmental disorder of mental health 0
                    syndromic intellectual disability 0
                      Pierpont syndrome 0
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