atelosteogenesis type I
Findings
No curated finding names atelosteogenesis type I yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A perinatally lethal skeletal dysplasia characterized by severe short-limbed dwarfism, joint dislocations, club feet along with distinctive facies and radiographic findings.
Definition from the Mondo Disease Ontology (MONDO:0007167), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
44 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.
- Bell-shaped thoraxHPOHP:0001591
- 1 of 1 reported patient
- Coronal cleft vertebraeHPOHP:0003417
- 1 of 1 reported patient
- Frequent (30% to 79% of cases)
- Depressed nasal bridgeHPOHP:0005280
- 1 of 1 reported patient
- Elbow dislocationHPOHP:0003042
- 1 of 1 reported patient
- Fibular aplasiaHPOHP:0002990
- 1 of 1 reported patient
- HypertelorismHPOHP:0000316
- 1 of 1 reported patient
- Occasional (5% to 29% of cases)
Show the remaining 32
- Short fingerHPOHP:0009381
- 1 of 1 reported patient
- TalipesHPOHP:0001883
- 1 of 1 reported patient
- Thoracic hypoplasiaHPOHP:0005257
- 1 of 1 reported patient
- Frequent (30% to 79% of cases)
- Vertebral hypoplasiaHPOHP:0008417
- 1 of 1 reported patient
- Abnormal fibula morphologyHPOHP:0002991
- Frequent (30% to 79% of cases)
- Abnormal ossification involving the femoral head and neckHPOHP:0009107
- 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.
- FLNBHGNC:3755
- Definitive · G2P · Autosomal dominant · 2023
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
Other names
5 names
Resolves to: atelosteogenesis type I
- Also called
- AO1AOIatelosteogenesis type 1giant cell chondrodysplasiaspondylo-humero-femoral dysplasia