achondrogenesis type 1A

Pathology

• lethal form of chondrodysplasia
• deficient ossification in the lumbar vertebrae
• absent ossification in the sacral, pubic & ischial bones

Genetics

• associated with defects in TRIP11

Clinical manifestations

• stillbirth or early death
• severe micromelia
• disproportionately large cranium due to marked edema of soft tissues

More general terms

• achondrogenesis

Additional terms

• achondroplasia

Database

• OMIM: https://mirror.omim.org/entry/200600