Say syndrome
MeSH: C536621ORPHA: 2013
Overview
cutaneous 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 Say syndrome, sourced from HPO and Orphanet clinical annotations.
HypospadiasCleft palateGingival overgrowthMicrocephalyMicrognathiaMacrotiaProtruding earPtosisPectus excavatumHypotoniaGlobal developmental delayHypoplastic toenailsDelayed skeletal maturationSkeletal muscle atrophyShort statureElfin faciesAplasia/Hypoplasia of the nipplesUlnar deviation of fingerShort distal phalanx of finger
Classification & Codes
MeSH Code
C536621Orphanet Code
ORPHA:2013Say syndrome
| MeSH | C536621 |
| Orphanet | ORPHA:2013 |
| Treatments | 0 drug(s) |
| Symptoms on record | 19 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO