Pierpont syndrome
MeSH: C566559ORPHA: 487825
Overview
human disease
Available Treatments (0)
No treatments linked yet
Clinical trials or compassionate use may be available — consult a specialist.
Clinical Presentation
Signs and symptoms associated with Pierpont syndrome, sourced from HPO and Orphanet clinical annotations.
Everted lower lip vermilionShort neckWidely spaced teethIntellectual disabilityHypotoniaPes planusDeep palmar creaseAbnormal subcutaneous fat tissue distributionWide nasal ridgeNarrow palpebral fissureThin vermilion borderBrachycephalyBroad philtrumHypertelorismSmooth philtrumHigh foreheadPosteriorly rotated earsHearing impairmentStrabismusDeeply set eyeTelecanthusProminent fingertip padsSmall for gestational ageShort toeScoliosisWide intermamillary distanceAtrophy/Degeneration affecting the central nervous systemExcessive wrinkling of palmar skinShort fingerUplifted earlobeLong upper lipPrimary microcephalyAbnormality of the plantar skin of footBrain imaging abnormalityCryptorchidismThin upper lip vermilionMalar flatteningMacrotiaMicrocorneaMicrophthalmiaAbsent speechJoint hypermobilityVentriculomegalyChiari malformationAbnormal cortical gyrationHigh anterior hairlineSevere global developmental delayPendular nystagmus
Classification & Codes
MeSH Code
C566559Orphanet Code
ORPHA:487825Pierpont syndrome
| MeSH | C566559 |
| Orphanet | ORPHA:487825 |
| Treatments | 0 drug(s) |
| Symptoms on record | 48 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO