Reinhardt-Pfeiffer mesomelic dysplasia

MeSH: C537349ORPHA: 2634

Overview

Mesomelic dwarfism, Reinhardt-Pfeiffer type is characterized by disproportionate short stature from birth with dysplasia of the ulna and fibula

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 Reinhardt-Pfeiffer mesomelic dysplasia, sourced from HPO and Orphanet clinical annotations.

MicromeliaAbnormal tibia morphologyHypoplasia of the ulnaFibular hypoplasiaElbow dislocationRadial head subluxationDisproportionate short statureUlnar deviation of fingerSkin dimpleAbnormal morphology of ulnaSynostosis of carpal bonesStrabismusMyopia

Classification & Codes

MeSH Code

C537349

Orphanet Code

ORPHA:2634
Reinhardt-Pfeiffer mesomelic dysplasia
MeSHC537349
OrphanetORPHA:2634
Treatments0 drug(s)
Symptoms on record13 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO