Barber-Say syndrome
MeSH: C537908ORPHA: 1231
Overview
rare genetic disorder
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 Barber-Say syndrome, sourced from HPO and Orphanet clinical annotations.
Shawl scrotumWide mouthAbnormality of the faceHypertelorismHearing impairmentAbnormal pinna morphologyAtresia of the external auditory canalBulbous noseWide nasal bridgeAnteverted naresTelecanthusEctropionDelayed eruption of teethHyperextensible skinFailure to thriveRedundant skinGeneralized hirsutismHypoplastic nipplesAplasia/Hypoplasia of the skinAblepharonBreast aplasiaAplasia/Hypoplasia of the eyebrowSparse or absent eyelashes
Classification & Codes
MeSH Code
C537908Orphanet Code
ORPHA:1231Barber-Say syndrome
| MeSH | C537908 |
| Orphanet | ORPHA:1231 |
| Treatments | 0 drug(s) |
| Symptoms on record | 23 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO