achondroplasia
Findings
No curated finding names achondroplasia yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Achondroplasia is the most common form of chondrodysplasia, characterized by rhizomelia, exaggerated lumbar lordosis, brachydactyly, and macrocephaly with frontal bossing and midface hypoplasia.
Definition from the Mondo Disease Ontology (MONDO:0007037), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Death in infancy · Congenital onset
HPO, annotations 2026-09-02
Features
56 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.
- Bowing of the legsHPOHP:0002979
- 1 of 1 reported patient
- Very frequent (80% to 99% of cases)
- Choanal stenosisHPOHP:0000452
- 1 of 1 reported patient
- Depressed nasal bridgeHPOHP:0005280
- 1 of 1 reported patient
- Frequent (30% to 79% of cases)
- Feeding difficultiesHPOHP:0011968
- 1 of 1 reported patient
- Femoral bowingHPOHP:0002980
- 1 of 1 reported patient
- Flared metaphysisHPOHP:0003015
- 1 of 1 reported patient
Show the remaining 44
- Premature rupture of membranesHPOHP:0001788
- 1 of 1 reported patient
- Pulmonary hypoplasiaHPOHP:0002089
- 1 of 1 reported patient
- Radial bowingHPOHP:0002986
- 1 of 1 reported patient
- Respiratory distressHPOHP:0002098
- 1 of 1 reported patient
- RhizomeliaHPOHP:0008905
- 1 of 1 reported patient
- Occasional (5% to 29% of cases)
- Severe platyspondylyHPOHP:0004565
- 1 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.
- FGFR3HGNC:3690
- Definitive · Ambry Genetics · Autosomal dominant · 2015
- Definitive · ClinGen · Autosomal dominant · 2023
- Definitive · G2P · Autosomal dominant · 2025
- Strong · Genomics England PanelApp · Autosomal dominant · 2021
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
Other names
1 name
Resolves to: achondroplasia
- Also called
- ACH