camptodactyly-joint contractures-facial skeletal defects syndrome
ORPHA: 1323
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 camptodactyly-joint contractures-facial skeletal defects syndrome, sourced from HPO and Orphanet clinical annotations.
Narrow mouthNarrow palateFacial asymmetryMicrognathiaHigh foreheadStrabismusPtosisProptosisJoint stiffnessLow posterior hairlineScoliosisAbnormal calvaria morphologyAbnormal hip bone morphologyHyperlordosisVertebral segmentation defectShort statureBiparietal narrowingSynostosis of carpal bonesFinger syndactylyCamptodactyly of fingerAsymmetric growthIntrauterine growth retardation
Classification & Codes
Orphanet Code
ORPHA:1323camptodactyly-joint contractures-facial skeletal defects syndrome
| Orphanet | ORPHA:1323 |
| Treatments | 0 drug(s) |
| Symptoms on record | 22 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO