brachydactyly type C

MeSH: C537093ORPHA: 93384

Overview

), have been reported in BDC patients. Many studies support an autosomal dominant mode of inheritance.

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 C, sourced from HPO and Orphanet clinical annotations.

Abnormal fingernail morphologyClinodactyly of the 5th fingerShort statureShort middle phalanx of fingerType C brachydactylyUlnar deviation of fingerPseudoepiphysis of the 2nd fingerComplete duplication of distal phalanx of the thumbStippling of the epiphysis of the distal phalanx of the thumbAplasia/Hypoplasia of the 1st metacarpalMetatarsus valgusCone-shaped epiphysisShort metatarsal

Classification & Codes

MeSH Code

C537093

Orphanet Code

ORPHA:93384
brachydactyly type C
MeSHC537093
OrphanetORPHA:93384
Treatments0 drug(s)
Symptoms on record13 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO