Achondrogenesis type 1B (Q54556)
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Achondrogenesis type 1B, a form of achondrogenesis, is a rare lethal skeletal dysplasia characterised by severe micromelia with very short fingers and toes, a flat face, a short neck, thickened soft tissue around the neck, hypoplasia of the thorax, protuberant abdomen, a hydropic fetal appearance and distinctive histological features of the cartilage.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_1740585991 |
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| English | Achondrogenesis type 1B |
Achondrogenesis type 1B, a form of achondrogenesis, is a rare lethal skeletal dysplasia characterised by severe micromelia with very short fingers and toes, a flat face, a short neck, thickened soft tissue around the neck, hypoplasia of the thorax, protuberant abdomen, a hydropic fetal appearance and distinctive histological features of the cartilage. |
