Achondrogenesis, Type Ii; Acg2
Description
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 Features
Top most frequent phenotypes and symptoms related to Achondrogenesis, Type Ii; Acg2
- Micrognathia
- Cleft palate
- Abnormality of the skeletal system
- Edema
- Abnormality of cardiovascular system morphology
- Severe short stature
- Prominent forehead
- Polydactyly
- Polyhydramnios
- Skeletal dysplasia
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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 Ii; Acg2 Is also known as achondrogenesis, langer-saldino type, achondrogenesis, type ib, formerly, chondrogenesis imperfecta.
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.
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