hypochondroplasia
MONDO:0007793Mondo
Findings
No curated finding names hypochondroplasia yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Hypochondroplasia is characterized by disproportionate short stature, mild lumbar lordosis and limited extension of the elbow joints.
Definition from the Mondo Disease Ontology (MONDO:0007793), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Juvenile onset
HPO, annotations 2026-09-02
Features
29 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.
- Depressed nasal bridgeHPOHP:0005280
- 2 of 2 reported patients
- Disproportionate short-limb short statureHPOHP:0008873
- 2 of 2 reported patients
- Prominent foreheadHPOHP:0011220
- 2 of 2 reported patients
- Short long boneHPOHP:0003026
- 2 of 2 reported patients
- Widened interpedicular distanceHPOHP:0012679
- 2 of 2 reported patients
- Abnormal vertebral body morphologyHPOHP:0003312
- Very frequent (80% to 99% of cases)
- BrachydactylyHPO
Show the remaining 17
- Abnormal metaphysis morphologyHPOHP:0000944
- Frequent (30% to 79% of cases)
- Abnormal pelvic girdle bone morphologyHPOHP:0002644
- Frequent (30% to 79% of cases)
- Abnormality of the elbowHPOHP:0009811
- Frequent (30% to 79% of cases)
- Genu varumHPOHP:0002970
- Frequent (30% to 79% of cases)
- Joint hypermobilityHPOHP:0001382
- Frequent (30% to 79% of cases)
- Lumbar hyperlordosisHPOHP:0002938
- 1 of 2 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.
- FGFR3HGNC:3690
- Definitive · ClinGen · Autosomal dominant · 2023
- Definitive · G2P · Autosomal dominant · 2025
- Strong · Ambry Genetics · Autosomal dominant · 2015
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Supportive · Orphanet · Autosomal dominant · 2021