Achondrogenesis, Type Ii; Acg2
Achondrogenesis type II is characterized by severe micromelic dwarfism with small chest and prominent abdomen, incomplete ossification of the vertebral bodies, and disorganization of the costochondral junction. This form is an autosomal dominant trait occurring mostly as new mutations. However, somatic and germline mosaicism have been reported (summary by Comstock et al., 2010).
Clinical FeaturesTop most frequent phenotypes and symptoms related to Achondrogenesis, Type Ii; Acg2
- Cleft palate
- Abnormality of the skeletal system
- Abnormality of cardiovascular system morphology
- Severe short stature
- Prominent forehead
- Skeletal dysplasia
And another 24 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 Ii; Acg2 Is also known as achondrogenesis, langer-saldino type, achondrogenesis, type ib, formerly, chondrogenesis imperfecta.
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.OMIM Rare Disease Symptoms Checker
If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like WARSAW BREAKAGE SYNDROME; WABS SEPTO-OPTIC DYSPLASIA SPECTRUM ISOLATED BRACHYCEPHALY PYLE DISEASE; PYL COWDEN SYNDROME 1; CWS1