Nicolaides–Baraitser syndrome
MeSH: C536116ORPHA: 3051
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 Nicolaides–Baraitser syndrome, sourced from HPO and Orphanet clinical annotations.
Wide mouthEverted lower lip vermilionThin vermilion borderMicrocephalySmooth philtrumTriangular faceLong philtrumAnteverted naresBrachydactylyIntellectual disabilityGlobal developmental delaySpecific learning disabilityJoint dislocationAlopeciaMutismAphasiaHigh, narrow palateShort palmSparse hairThick nasal alaeEcholaliaCryptorchidismAbnormal testis morphologyNarrow nasal bridgeLong eyelashesBlepharophimosisEczematoid dermatitisAbnormal finger morphologySeizureSandal gapGeneralized non-motor (absence) seizureStatus epilepticusHighly arched eyebrowScoliosisSevere short statureWide intermamillary distanceExcessive wrinkled skinCurly eyelashesBroad distal phalanx of fingerAbnormal hair patternEpileptic spasmShort palpebral fissureClubbing of toesDownslanted palpebral fissuresDelayed skeletal maturationAccelerated skeletal maturationAbnormal epiphysis morphologyAbnormal cardiovascular system morphologyHerniaAbnormal metacarpal morphology
Classification & Codes
MeSH Code
C536116Orphanet Code
ORPHA:3051Nicolaides–Baraitser syndrome
| MeSH | C536116 |
| Orphanet | ORPHA:3051 |
| Treatments | 0 drug(s) |
| Symptoms on record | 50 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO