brachydactyly type E
ORPHA: 93387
Overview
Brachydactyly type E (BDE) is a congenital malformation of the digits characterized by variable shortening of the metacarpals with more or less normal length phalanges, although the terminal phalanges are often short
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 brachydactyly type E, sourced from HPO and Orphanet clinical annotations.
MacrocephalyFrontal bossingShort statureType E brachydactylyShort distal phalanx of fingerShort metacarpalAplasia/Hypoplasia of the distal phalanx of the halluxShort metatarsalUpper limb asymmetryJoint hypermobility
Classification & Codes
Orphanet Code
ORPHA:93387brachydactyly type E
| Orphanet | ORPHA:93387 |
| Treatments | 0 drug(s) |
| Symptoms on record | 10 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO