achondrogenesis type IA
Findings
No curated finding names achondrogenesis type IA yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Achondrogenesis type 1A (ACG1A), a form of achondrogenesis, is a very rare, lethal skeletal dysplasia characterized by dwarfism with extremely short limbs, narrow chest, short ribs that are easily fractured, soft skull bones and distinctive histological features of the cartilage.
Definition from the Mondo Disease Ontology (MONDO:0008701), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Second trimester onset
HPO, annotations 2026-09-02
Features
48 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.
- Absence of stomach bubble on fetal sonographyHPOHP:0010963
- 1 of 1 reported patient
- Bell-shaped thoraxHPOHP:0001591
- 1 of 1 reported patient
- Bowing of the armHPOHP:0006488
- 1 of 1 reported patient
- Bowing of the legsHPOHP:0002979
- 1 of 1 reported patient
- Decreased skull ossificationHPOHP:0004331
- 1 of 1 reported patient
- Depressed nasal bridgeHPOHP:0005280
- 1 of 1 reported patient
- Disproportionate short-trunk short statureHPO
Show the remaining 36
- Low-set earsHPOHP:0000369
- 1 of 1 reported patient
- MicromeliaHPOHP:0002983
- 1 of 1 reported patient
- Very frequent (80% to 99% of cases)
- Multiple rib fracturesHPOHP:0006640
- 1 of 1 reported patient
- Frequent (30% to 79% of cases)
- Narrow chestHPOHP:0000774
- 1 of 1 reported patient
- Very frequent (80% to 99% of cases)
- Protruding tongueHPOHP:0010808
- 1 of 1 reported patient
- Protuberant abdomenHPOHP:0001538
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.
- TRIP11HGNC:12305
- Definitive · G2P · Autosomal recessive · 2023
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2021
- Strong · Laboratory for Molecular Medicine · Autosomal recessive · 2020
- Moderate · Ambry Genetics · Autosomal recessive · 2020
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
1 name
Resolves to: achondrogenesis type IA
- Also called
- achondrogenesis, Houston-Harris type