Achondrogenesis Type 2
Achondrogenesis type 2 (ACG2), a form of achondrogenesis (see this term), is a very rare and lethal skeletal dysplasia and part of the spectrum of type 2 collagen-related bone disorders (see this term), characterizedby 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.
Genes related to Achondrogenesis Type 2
Clinical FeaturesTop most frequent phenotypes and symptoms related to Achondrogenesis Type 2
- Frontal bossing
- Anteverted nares
- Short neck
- Short nose
- Long philtrum
- Abnormality of cardiovascular system morphology
- Umbilical hernia
And another 14 symptoms. If you need more information about this disease we can help you.
Incidence and onset information— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
— No data available about the known clinical features onset.
Achondrogenesis Type 2 Is also known as achondrogenesis, langer-saldino type.
Researches and researchersCurrently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.
Sources and references
You can check the following sources for additional information.ORPHANET Genetic Syndrome Finder
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