osteochondrodysplasia, brachydactyly, and overlapping malformed digits
MONDO:0032574Mondo
Findings
No curated finding names osteochondrodysplasia, brachydactyly, and overlapping malformed digits yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
21 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.
- BrachydactylyHPOHP:0001156
- 10 of 10 reported patients
- Mild short statureHPOHP:0003502
- 10 of 10 reported patients
- ScoliosisHPOHP:0002650
- 5 of 6 reported patients
- Hallux varusHPOHP:0008080
- 7 of 10 reported patients
- ArthralgiaHPOHP:0002829
- 2 of 3 reported patients
- Easy fatigabilityHPOHP:0003388
- 2 of 3 reported patients
- Joint stiffnessHPOHP:0001387
- 2 of 3 reported patients
- Patellar dislocationHPOHP:0002999
- 2 of 3 reported patients
- Short distal phalanx of fingerHPOHP:0009882
- 2 of 3 reported patients
- Overlapping toeHPOHP:0001845
- 6 of 10 reported patients
- Lumbar hyperlordosisHPOHP:0002938
- 3 of 6 reported patients
- Overlapping fingersHPOHP:0010557
- 5 of 10 reported patients
Show the remaining 9
- Absent dorsal skin creases over affected jointsHPOHP:0001049
- 4 of 10 reported patients
- Adducted thumbHPOHP:0001181
- 4 of 10 reported patients
- Sandal gapHPOHP:0001852
- 4 of 10 reported patients
- Short thumbHPOHP:0009778
- 4 of 10 reported patients
- Triangular shaped phalanges of the handHPOHP:0009774
- 1 of 3 reported patients
- Broad halluxHPOHP:0010055
- 3 of 10 reported patients
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.
- CHST11HGNC:17422
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2018
- Limited · Ambry Genetics · Autosomal recessive · 2018
Where it sits
- A kind of