congenital absence of upper arm and forearm with hand present
ORPHA: 294975
Overview
congenital malformation in which the upper portion of a limb is either shortened or absent
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 congenital absence of upper arm and forearm with hand present, sourced from HPO and Orphanet clinical annotations.
Abnormal heart morphologyUpper limb phocomeliaAbnormality of the musculoskeletal systemAbnormal thorax morphologyAbnormality of the vertebral columnAbnormal cardiac septum morphologyAbnormality of the faceAbnormality of the neckCongenital malformation of the great arteriesAbnormal lung morphologyCleft palateRenal agenesisAbnormal hip bone morphologyPolydactylySyndactylySmall for gestational ageAtypical scarring of skin
Classification & Codes
Orphanet Code
ORPHA:294975congenital absence of upper arm and forearm with hand present
| Orphanet | ORPHA:294975 |
| Treatments | 0 drug(s) |
| Symptoms on record | 17 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO