Say–Meyer syndrome
MeSH: C536620ORPHA: 3369
Overview
X-linked recessive disorder characterised by developmental delay
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–Meyer syndrome, sourced from HPO and Orphanet clinical annotations.
TrigonocephalyGlobal developmental delayShort statureInguinal herniaBroad secondary alveolar ridgeHigh palateSmall anterior fontanelleEpicanthusNarrow foreheadWide nasal bridgeHypotelorismSeizureSmall for gestational ageVentricular septal defectModerate intellectual disabilitySecondary microcephalyPremature posterior fontanelle closureMetopic suture patent to nasal rootFifth finger distal phalanx clinodactylyPostnatal growth retardationMultiple suture craniosynostosisPosteriorly rotated earsConvex nasal ridge
Classification & Codes
MeSH Code
C536620Orphanet Code
ORPHA:3369Say–Meyer syndrome
| MeSH | C536620 |
| Orphanet | ORPHA:3369 |
| Treatments | 0 drug(s) |
| Symptoms on record | 23 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO