acromesomelic dysplasia, Hunter-Thompson type
ORPHA: 968
Overview
acromesomelic dysplasia that has material basis in mutation in AMDH gene which results in normal axial skeleton but fused bones in the located in hand or located in foot
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 acromesomelic dysplasia, Hunter-Thompson type, sourced from HPO and Orphanet clinical annotations.
BrachydactylyJoint stiffnessAbnormal speech patternAbnormal pelvic girdle bone morphologyScoliosisHip dislocationPatellar dislocationAbnormality of the ankleElbow dislocationAcromesomeliaCuboidal metacarpalAbnormally shaped carpal bonesBilateral single transverse palmar creasesTarsal synostosisSevere short-limb dwarfismShort thumbShort metacarpalCognitive impairment
Classification & Codes
Orphanet Code
ORPHA:968acromesomelic dysplasia, Hunter-Thompson type
| Orphanet | ORPHA:968 |
| Treatments | 0 drug(s) |
| Symptoms on record | 18 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO