Temple-Baraitser syndrome
MeSH: C567516ORPHA: 420561
Overview
medical condition
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 Temple-Baraitser syndrome, sourced from HPO and Orphanet clinical annotations.
Everted upper lip vermilionTented upper lip vermilionHypoplastic thumbnailAbsent nail of halluxWide mouthMicrocephalyCoarse facial featuresEpicanthusHypertelorismLong philtrumMacrotiaWide nasal bridgeWide noseLong eyelashesThick eyebrowDelayed eruption of teethSeizureGeneralized hypotoniaAbsent speechBilateral ptosisLong halluxConstipationMyopathic faciesEEG abnormalityShort statureDepressed nasal bridgeAplastic/hypoplastic toenailSevere intellectual disabilityBroad thumbSevere global developmental delayAbnormal brain morphologyThick vermilion borderOpen mouthGingival overgrowthHigh palateEverted lower lip vermilionMalar flatteningFull cheeksLow anterior hairlineAnteverted naresAbsent toenailHypoplastic fingernailDelayed phalangeal epiphyseal ossificationTriangular shaped distal phalanx of the thumbShort phalanx of the thumbShort distal phalanx of fingerHigh anterior hairlineThick nasal alae
Classification & Codes
MeSH Code
C567516Orphanet Code
ORPHA:420561Temple-Baraitser syndrome
| MeSH | C567516 |
| Orphanet | ORPHA:420561 |
| Treatments | 0 drug(s) |
| Symptoms on record | 48 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO