Hypochondrogenesis (Q46594)
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A condition caused by failure of the skeletal system to correctly develop during the antenatal period, due to mutation of the COL2A1 gene. This condition is characterised by a small body, short limbs, underdeveloped lungs, flat and oval-shaped face, hypertelorism, micrognathia, enlarged abdomen, and ossification in the spine and pelvis. This condition may also present with a cleft palate.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | LD24.51 |
||
| English | Hypochondrogenesis |
A condition caused by failure of the skeletal system to correctly develop during the antenatal period, due to mutation of the COL2A1 gene. This condition is characterised by a small body, short limbs, underdeveloped lungs, flat and oval-shaped face, hypertelorism, micrognathia, enlarged abdomen, and ossification in the spine and pelvis. This condition may also present with a cleft palate. |
Statements
CID11:LD24.51
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dki-india-LD24.51
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Concluído
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