Achondrogenesis type 2 (Q65955): Difference between revisions
From determinar.ia.br - Determine suas informações
Created a new Item |
Changed label, description and/or aliases in pt-br, en |
||
| description / pt-br | description / pt-br | ||
Acondrogenesia tipo 2, uma forma de acondrogesia, é uma displasia esquelética letal muito rara e parte do espectro de transtornos ósseos relacionados ao colágeno tipo 2, caracterizada por micromelia grave, pescoço curto com cabeça grande, tórax pequeno, abdômen protuberante, pulmões subdesenvolvidos , características faciais distintas, como testa proeminente, queixo pequeno, fenda palatina (em alguns) e características histológicas distintas da cartilagem. | |||
| description / en | description / en | ||
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. | |||
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 |
||
| 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. |
