craniofrontonasal dysplasia
ICD-10: Q87.1MeSH: C536456ORPHA: 2632
Overview
human disease
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 craniofrontonasal dysplasia, sourced from HPO and Orphanet clinical annotations.
High palateAbnormal carpal morphologyMicromeliaMadelung deformitySevere short statureMesomelic/rhizomelic limb shorteningAbnormal epiphysis morphologyBowing of the long bonesAplasia/Hypoplasia of the fibulaDisproportionate short-limb short statureUlnar deviation of fingerAbnormal morphology of ulnaShort femoral neckDiarrhea
Classification & Codes
ICD-10 Code
Q87.1MeSH Code
C536456Orphanet Code
ORPHA:2632craniofrontonasal dysplasia
| ICD-10 | Q87.1 |
| MeSH | C536456 |
| Orphanet | ORPHA:2632 |
| Treatments | 0 drug(s) |
| Symptoms on record | 14 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO