Langer mesomelic dysplasia
Findings
No curated finding names Langer mesomelic dysplasia yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Langer mesomelic dysplasia (LMD) is characterized by severe disproportionate short stature with mesomelic and rhizomelic shortening of the upper and lower limbs.
Definition from the Mondo Disease Ontology (MONDO:0009588), read 2026-09-29. CC BY 4.0.
Features
19 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.
- High palateHPOHP:0000218
- 1 of 1 reported patient
- Very frequent (80% to 99% of cases)
- Increased carrying angleHPOHP:0003102
- 1 of 1 reported patient
- Madelung deformityHPOHP:0003067
- 1 of 1 reported patient
- Very frequent (80% to 99% of cases)
- Mesomelic arm shorteningHPOHP:0005011
- 1 of 1 reported patient
- Mesomelic short statureHPOHP:0008845
- 1 of 1 reported patient
- Rhizomelic arm shorteningHPOHP:0004991
- 1 of 1 reported patient
- Abnormal carpal morphologyHPOHP:0001191
- Very frequent (80% to 99% of cases)
- Abnormal epiphysis morphologyHPOHP:0005930
- Very frequent (80% to 99% of cases)
- Abnormal morphology of ulnaHPOHP:0040071
- Very frequent (80% to 99% of cases)
- Aplasia/Hypoplasia of the fibulaHPOHP:0006492
- Very frequent (80% to 99% of cases)
- Bowing of the long bonesHPOHP:0006487
- Very frequent (80% to 99% of cases)
- Disproportionate short-limb short statureHPOHP:0008873
- Very frequent (80% to 99% of cases)
Show the remaining 7
- Mesomelic/rhizomelic limb shorteningHPOHP:0005026
- Very frequent (80% to 99% of cases)
- MicromeliaHPOHP:0002983
- Very frequent (80% to 99% of cases)
- Severe short statureHPOHP:0003510
- Very frequent (80% to 99% of cases)
- Short femoral neckHPOHP:0100864
- Very frequent (80% to 99% of cases)
- Ulnar deviation of fingerHPOHP:0009465
- Very frequent (80% to 99% of cases)
- Fibular hypoplasiaHPOHP:0003038
- 0 of 1 reported patient
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- SHOXHGNC:10853
- Definitive · G2P · X-linked · 2023
- Strong · Labcorp Genetics (formerly Invitae) · X-linked · 2023
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Unknown · 2018
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
- A kind of
Other names
4 names
Resolves to: Langer mesomelic dysplasia
- Also called
- langer mesomelic dysplasia, pseudoautosomal recessiveLanger syndromeLanger type mesomelic dysplasiamesomelic dwarfism, Langer type