acrofrontofacionasal dysostosis
MeSH: C538186ORPHA: 1784
Overview
dysostosis characterized
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 acrofrontofacionasal dysostosis, sourced from HPO and Orphanet clinical annotations.
HypospadiasBifid scrotumAbnormality of the genitourinary systemCleft palateHigh palateEverted lower lip vermilionBrachycephalyHypertelorismBroad foreheadBroad nasal tipDownslanted palpebral fissuresPtosisEyelid colobomaHypopigmented skin patchesBrushfield spotsBrachydactylyAnonychiaCerebral cortical atrophyMicromeliaDimple on nasal tipShort statureAbnormal epiphysis morphologyShort distal phalanx of fingerSevere intellectual disabilityBroad thumbMidface retrusionNon-midline cleft of the upper lipCamptodactyly of fingerAplasia/Hypoplasia of the eyebrow
Classification & Codes
MeSH Code
C538186Orphanet Code
ORPHA:1784acrofrontofacionasal dysostosis
| MeSH | C538186 |
| Orphanet | ORPHA:1784 |
| Treatments | 0 drug(s) |
| Symptoms on record | 29 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO