Achondrogenesis type 2 (Q65955): Difference between revisions
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Latest revision as of 13:45, 14 August 2026
Achondrogenesis type 2, a form of achondrogenesis, is a very rare and lethal skeletal dysplasia and part of the spectrum of type 2 collagen-related bone disorders, characterised by severe micromelia, short neck with large head, small thorax, protuberant abdomen, underdeveloped lungs, distinctive facial features such as a prominent forehead, a small chin, a cleft palate (in some) and distinctive histological features of the cartilage.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_1935291412 |
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| English | Achondrogenesis type 2 |
Achondrogenesis type 2, a form of achondrogenesis, is a very rare and lethal skeletal dysplasia and part of the spectrum of type 2 collagen-related bone disorders, characterised by severe micromelia, short neck with large head, small thorax, protuberant abdomen, underdeveloped lungs, distinctive facial features such as a prominent forehead, a small chin, a cleft palate (in some) and distinctive histological features of the cartilage. |
Statements
CID11:ID_1935291412
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dki-india-ID_1935291412
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Concluído
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13 August 2026
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