Tibial aplasia-ectrodactyly syndrome

ORPHA: 3329

Overview

Tibial aplasia-ectrodactyly syndrome is a rare condition characterized by congenital ectrodactylous limb malformations associated with tibial aplasia or hypoplasia

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 Tibial aplasia-ectrodactyly syndrome, sourced from HPO and Orphanet clinical annotations.

Overfolded helixBrachydactylyPostaxial hand polydactylySplit handPreaxial hand polydactylyLimitation of joint mobilityOmphaloceleAbnormal femur morphologyFemoral bowingAbnormal fibula morphologyFibular hypoplasiaShort femurAplasia/Hypoplasia of the tibiaFinger syndactylyPatellar aplasiaAplasia/Hypoplasia of the ulnaPopliteal pterygiumEctrodactyly

Classification & Codes

Orphanet Code

ORPHA:3329
Tibial aplasia-ectrodactyly syndrome
OrphanetORPHA:3329
Treatments0 drug(s)
Symptoms on record18 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO