Achondrogenesis Type 2
Description
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.
Clinical Features
Top most frequent phenotypes and symptoms related to Achondrogenesis Type 2
- Micrognathia
- Macrocephaly
- Frontal bossing
- Anteverted nares
- Short neck
- Short nose
- Long philtrum
- Abnormality of cardiovascular system morphology
- Polyhydramnios
- 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.
Alternative names
Achondrogenesis Type 2 Is also known as achondrogenesis, langer-saldino type.
Researches and researchers
Currently, 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 FinderIf you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY; SINO NEPHROTIC SYNDROME, TYPE 7; NPHS7 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia; CDG1A HEMOGLOBIN C-BETA-THALASSEMIA SYNDROME 46,XX SEX REVERSAL 1; SRXX1