atelosteogenesis type III
Findings
No curated finding names atelosteogenesis type III yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A skeletal dysplasia characterized by short limbs dysmorphic facies and diagnostic radiographic findings.
Definition from the Mondo Disease Ontology (MONDO:0007168), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
27 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.
- Abnormal humerus morphologyHPOHP:0031095
- Frequent (30% to 79% of cases)
- Coronal cleft vertebraeHPOHP:0003417
- Frequent (30% to 79% of cases)
- Distal tapering femurHPOHP:0006408
- Frequent (30% to 79% of cases)
- Elbow dislocationHPOHP:0003042
- Frequent (30% to 79% of cases)
- Hip dislocationHPOHP:0002827
- Frequent (30% to 79% of cases)
- Knee dislocationHPOHP:0004976
- Frequent (30% to 79% of cases)
- Patellar dislocation
Show the remaining 15
- Absent humerusHPOHP:0003862
- Occasional (5% to 29% of cases)
- Absent radiusHPOHP:0003974
- Occasional (5% to 29% of cases)
- Club-shaped distal femurHPOHP:0006384
- Occasional (5% to 29% of cases)
- Epiphyseal stippling of the humerusHPOHP:0003902
- Occasional (5% to 29% of cases)
- Fibular aplasiaHPOHP:0002990
- Occasional (5% to 29% of cases)
- Global developmental delayHPOHP:0001263
- Occasional (5% to 29% 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.
- FLNBHGNC:3755
- Definitive · G2P · Autosomal dominant · 2023
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
Other names
3 names
Resolves to: atelosteogenesis type III
- Also called
- AO3AOIIIatelosteogenesis type 3