" /> Achondrogenesis, type ia - CISMeF





Preferred Label : Achondrogenesis, type ia;

Symbol : ACG1A;

CISMeF acronym : ACG1A;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Achondrogenesis, houston-harris type;

Description : The term achondrogenesis has been used to characterize the most severe forms of chondrodysplasia in humans, invariably lethal before or shortly after birth. Achondrogenesis type I, as described by Parenti (1936) and by Fraccaro (1952), is a severe chondrodystrophy characterized radiographically by deficient ossification in the lumbar vertebrae and absent ossification in the sacral, pubic and ischial bones and clinically by stillbirth or early death (Maroteaux and Lamy, 1968; Langer et al., 1969). In addition to severe micromelia, there is a disproportionately large cranium due to marked edema of soft tissues.;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the thyroid hormone receptor interactor 11 gene (TRIP11, 604505.0001);

Prefixed ID : #200600;

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27/07/2025


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