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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.
Features include always present findings: Micromelia, Pulmonary hypoplasia, Bell-shaped thorax, and Protruding tongue and others; and common findings: Abnormal ischium ossification. 41 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Bones and joints | 6 | Crescent-shaped iliac bone, Abnormal foot bone ossification, Abnormal hand bone ossification |
TRIP11 function has not been fully characterized.
Achondrogenesis type IA is associated with mutations in the TRIP11 gene on chromosome 14.
Genetic testing for TRIP11 is available. Testing is considered confirmatory for diagnosis.
Phenotype severity distribution: 26 always present features, 1 common feature.
Estimated prevalence: Unknown (Unknown prevalence).
Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 9:39 PM UTC
Online Mendelian Inheritance in Man
European rare disease database
Genetic and Rare Diseases Info Center
Common questions about achondrogenesis type IA
Arms and legs |
3 |
Severe limb shortening, Abnormal foot bone ossification, Abnormal hand bone ossification |
Pregnancy and birth | 2 | Absence of stomach bubble on fetal sonography, Hydrops fetalis |
Lungs and breathing | 1 | Pulmonary hypoplasia |
Head and neck | 1 | Flat face |
Growth and development | 1 | Disproportionate short-trunk short stature |
Brain and nerves | 1 | Depressed nasal bridge |
Age of onset: before birth.