Hypochondrogenesis (Q46594): Difference between revisions
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Condição causada pela falha do sistema esquelético em se desenvolver corretamente durante o período pré-natal, devido à mutação do gene COL2A1. Esta condição é caracterizada por um corpo pequeno, membros curtos, pulmões subdesenvolvidos, face plana e oval, hipertelorismo, micrognatia, abdômen aumentado e ossificação em coluna e pelve. Essa condição também pode se apresentar com fenda palatina. | |||
| description / en | description / en | ||
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. | |||
Revision as of 15:16, 13 August 2026
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 |
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| 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. |
