Mesomelic dysplasia, Savarirayan type
Synonyms: Mesomelic dysplasia with absent fibulas and triangular tibias | Triangular tibia-fibular aplasia syndrome
Mesomelic dysplasia Savarirayan type is characterised by severely hypoplastic and triangular-shaped tibiae and absence of the fibulae. So far two sporadic cases have been described. Moderate mesomelia of the upper limbs proximal widening of the ulnas pelvic anomalies and marked bilateral glenoid hypoplasia were also reported.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Reference: Access aggregated data from Orphanet at Orphadata.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version April 2024
Newly diagnosed with
Mesomelic dysplasia, Savarirayan type?
Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.
Clinical Trials
For a list of clinical trials in this disease area, please click here.