pseudoachondroplasia
MONDO:0008322Mondo
Findings
No curated finding names pseudoachondroplasia yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Pseudoachondroplasia is characterized by severe growth deficiency and deformations such as bow legs and hyperlordosis.
Definition from the Mondo Disease Ontology (MONDO:0008322), read 2026-09-29. CC BY 4.0.
Features
52 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
- 6 of 6 reported patients
- Frequent (30% to 79% of cases)
- ScoliosisHPOHP:0002650
- 6 of 6 reported patients
- Occasional (5% to 29% of cases)
- Beaking of vertebral bodiesHPOHP:0004568
- 5 of 6 reported patients
- Occasional (5% to 29% of cases)
- Genu varumHPOHP:0002970
- 5 of 6 reported patients
- Occasional (5% to 29% of cases)
- Irregular epiphysesHPOHP:0010582
- 5 of 6 reported patients
- Frequent (30% to 79% of cases)
- Metaphyseal irregularityHPOHP:0003025
- 5 of 6 reported patients
- Frequent (30% to 79% of cases)
- PlatyspondylyHPOHP:0000926
- 5 of 6 reported patients · Childhood onset
- Frequent (30% to 79% of cases)
- Disproportionate short-limb short statureHPOHP:0008873
- Childhood onset
- Very frequent (80% to 99% of cases)
- Joint hypermobilityHPOHP:0001382
- Very frequent (80% to 99% of cases)
- OsteoarthritisHPOHP:0002758
- 11 of 16 reported patients
- Frequent (30% to 79% of cases)
- Abnormal vertebral body morphologyHPOHP:0003312
- Frequent (30% to 79% of cases)
- ArthralgiaHPOHP:0002829
- Childhood onset
- Frequent (30% to 79% of cases)
Show the remaining 40
- Delayed epiphyseal ossificationHPOHP:0002663
- Frequent (30% to 79% of cases)
- Distal joint hypermobilityHPOHP:0020152
- Frequent (30% to 79% of cases)
- Generalized joint hypermobilityHPOHP:0002761
- Frequent (30% to 79% of cases)
- Increased laxity of fingersHPOHP:0006149
- Frequent (30% to 79% of cases)
- Knee joint hypermobilityHPOHP:0045086
- Frequent (30% to 79% of cases)
- Limb undergrowthHPOHP:0009826
- Frequent (30% to 79% of cases)
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.
- COMPHGNC:2227
- Definitive · Illumina · Autosomal dominant · 2017
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
- Supportive · Orphanet · Autosomal dominant · 2021
- Limited · Labcorp Genetics (formerly Invitae) · Unknown · 2023
Where it sits
Other names
3 names
Resolves to: pseudoachondroplasia
- Also called
- Pseudoachondroplastic dysplasiaPseudoachondroplastic spondyloepiphyseal dysplasiaspondyloepiphyseal dysplasia, PSEUDOACHONDROPLASTIC