mesomelic dysplasia, Savarirayan type
Findings
No curated finding names mesomelic dysplasia, Savarirayan type yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Mesomelic dysplasia, Savarirayan type is characterized 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.
Definition from the Mondo Disease Ontology (MONDO:0011530), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
28 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Short statureHPOHP:0004322
- 3 of 3 reported patients
- Very frequent (80% to 99% of cases)
- Bowing of the long bonesHPOHP:0006487
- Very frequent (80% to 99% of cases)
- Broad tibial metaphysesHPOHP:0006413
- Very frequent (80% to 99% of cases)
- Fibular aplasiaHPOHP:0002990
- 2 of 3 reported patients
- Very frequent (80% to 99% of cases)
- Flared radial metaphysisHPOHP:0004018
- Very frequent (80% to 99% of cases)
- Glenoid fossa hypoplasiaHPOHP:0006633
- Very frequent (80% to 99% of cases)
Show the remaining 16
- Skeletal dysplasiaHPOHP:0002652
- Very frequent (80% to 99% of cases)
- Mesomelic leg shorteningHPOHP:0004987
- 2 of 3 reported patients
- Short tibiaHPOHP:0005736
- 2 of 3 reported patients
- Elbow dislocationHPOHP:0003042
- Frequent (30% to 79% of cases)
- Intellectual disabilityHPOHP:0001249
- Frequent (30% to 79% of cases)
- Absent tibiaHPOHP:0009556
- 1 of 3 reported patients
Where it sits
- A kind of
Other names
2 names
Resolves to: mesomelic dysplasia, Savarirayan type
- Also called
- mesomelic dysplasia with absent fibulas and triangular tibiastriangular tibia-fibular aplasia syndrome