chondrodysplasia with joint dislocations, gPAPP type
MONDO:0013561Mondo
Findings
No curated finding names chondrodysplasia with joint dislocations, gPAPP type yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
25 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.
- Cleft palateHPOHP:0000175
- 4 of 4 reported patients
- MicrognathiaHPOHP:0000347
- 4 of 4 reported patients
- Patellar dislocationHPOHP:0002999
- 4 of 4 reported patients
- Knee dislocationHPOHP:0004976
- 5 of 8 reported patients
- Hearing impairmentHPOHP:0000365
- 4 of 7 reported patients
- BrachydactylyHPOHP:0001156
- 2 of 4 reported patients
- Capitate-hamate fusionHPOHP:0001241
- 2 of 4 reported patients
- Flat faceHPOHP:0012368
- 2 of 4 reported patients
- High foreheadHPOHP:0000348
- 2 of 4 reported patients
- Intervertebral space narrowingHPOHP:0002945
- 2 of 4 reported patients
- Short metacarpalHPOHP:0010049
- 2 of 4 reported patients
- Short statureHPOHP:0004322
- 4 of 8 reported patients
Show the remaining 13
- Coronal craniosynostosisHPOHP:0004440
- 2 of 8 reported patients
- Genu valgumHPOHP:0002857
- 1 of 4 reported patients
- Hip dysplasiaHPOHP:0001385
- 1 of 4 reported patients
- Hitchhiker thumbHPOHP:0001234
- 1 of 4 reported patients
- Irregular epiphyses of the metacarpalsHPOHP:0009190
- 1 of 4 reported patients
- Limb undergrowthHPOHP:0009826
- 1 of 4 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.
- BPNT2HGNC:26019
- Definitive · G2P · Autosomal recessive · 2023
- Strong · Ambry Genetics · Autosomal recessive · 2024
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · ClinGen · Autosomal recessive · 2024
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
1 name
Resolves to: chondrodysplasia with joint dislocations, gPAPP type
- Also called
- gPAPP deficiency